Name: rs3173615
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3173615

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:12229791 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.473403 (125305/264690, TOPMED)
G=0.490575 (120502/245634, GnomAD_exome)
C=0.498472 (69801/140030, GnomAD) (+ 23 more)
G=0.491556 (59438/120918, ExAC)
G=0.415382 (44450/107010, ALFA)
C=0.41150 (32378/78682, PAGE_STUDY)
C=0.40775 (6833/16758, 8.3KJPN)
G=0.49869 (6484/13002, GO-ESP)
C=0.4054 (2596/6404, 1000G_30x)
C=0.4050 (2028/5008, 1000G)
G=0.3607 (1616/4480, Estonian)
G=0.4271 (1646/3854, ALSPAC)
G=0.4159 (1542/3708, TWINSUK)
C=0.3423 (1003/2930, KOREAN)
C=0.3335 (611/1832, Korea1K)
G=0.420 (419/998, GoNL)
C=0.337 (260/772, PRJEB37584)
C=0.357 (219/614, Vietnamese)
G=0.400 (240/600, NorthernSweden)
G=0.380 (203/534, MGP)
C=0.286 (130/454, SGDP_PRJ)
C=0.420 (137/326, HapMap)
G=0.339 (103/304, FINRISK)
G=0.463 (100/216, Qatari)
C=0.40 (16/40, GENOME_DK)
C=0.37 (14/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TMEM106B : Missense Variant
Publications: 17 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	107010	C=0.584618	A=0.000000, G=0.415382
European	Sub	92884	C=0.59708	A=0.00000, G=0.40292
African	Sub	1862	C=0.4764	A=0.0000, G=0.5236
African Others	Sub	76	C=0.29	A=0.00, G=0.71
African American	Sub	1786	C=0.4843	A=0.0000, G=0.5157
Asian	Sub	3218	C=0.3741	A=0.0000, G=0.6259
East Asian	Sub	2584	C=0.3611	A=0.0000, G=0.6389
Other Asian	Sub	634	C=0.427	A=0.000, G=0.573
Latin American 1	Sub	674	C=0.488	A=0.000, G=0.512
Latin American 2	Sub	446	C=0.599	A=0.000, G=0.401
South Asian	Sub	198	C=0.439	A=0.000, G=0.561
Other	Sub	7728	C=0.5599	A=0.0000, G=0.4401

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.473403	G=0.526597
gnomAD - Exomes	Global	Study-wide	245634	C=0.509425	G=0.490575
gnomAD - Exomes	European	Sub	133572	C=0.601159	G=0.398841
gnomAD - Exomes	Asian	Sub	47172	C=0.36592	G=0.63408
gnomAD - Exomes	American	Sub	32894	C=0.40962	G=0.59038
gnomAD - Exomes	African	Sub	16150	C=0.32768	G=0.67232
gnomAD - Exomes	Ashkenazi Jewish	Sub	9860	C=0.5637	G=0.4363
gnomAD - Exomes	Other	Sub	5986	C=0.5428	G=0.4572
gnomAD - Genomes	Global	Study-wide	140030	C=0.498472	G=0.501528
gnomAD - Genomes	European	Sub	75840	C=0.59789	G=0.40211
gnomAD - Genomes	African	Sub	41962	C=0.33697	G=0.66303
gnomAD - Genomes	American	Sub	13636	C=0.45776	G=0.54224
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.5639	G=0.4361
gnomAD - Genomes	East Asian	Sub	3122	C=0.3546	G=0.6454
gnomAD - Genomes	Other	Sub	2152	C=0.5098	G=0.4902
ExAC	Global	Study-wide	120918	C=0.508444	G=0.491556
ExAC	Europe	Sub	73076	C=0.59839	G=0.40161
ExAC	Asian	Sub	25010	C=0.36449	G=0.63551
ExAC	American	Sub	11536	C=0.40404	G=0.59596
ExAC	African	Sub	10390	C=0.33321	G=0.66679
ExAC	Other	Sub	906	C=0.566	G=0.434
Allele Frequency Aggregator	Total	Global	107010	C=0.584618	A=0.000000, G=0.415382
Allele Frequency Aggregator	European	Sub	92884	C=0.59708	A=0.00000, G=0.40292
Allele Frequency Aggregator	Other	Sub	7728	C=0.5599	A=0.0000, G=0.4401
Allele Frequency Aggregator	Asian	Sub	3218	C=0.3741	A=0.0000, G=0.6259
Allele Frequency Aggregator	African	Sub	1862	C=0.4764	A=0.0000, G=0.5236
Allele Frequency Aggregator	Latin American 1	Sub	674	C=0.488	A=0.000, G=0.512
Allele Frequency Aggregator	Latin American 2	Sub	446	C=0.599	A=0.000, G=0.401
Allele Frequency Aggregator	South Asian	Sub	198	C=0.439	A=0.000, G=0.561
The PAGE Study	Global	Study-wide	78682	C=0.41150	G=0.58850
The PAGE Study	AfricanAmerican	Sub	32510	C=0.34076	G=0.65924
The PAGE Study	Mexican	Sub	10808	C=0.43375	G=0.56625
The PAGE Study	Asian	Sub	8318	C=0.4051	G=0.5949
The PAGE Study	PuertoRican	Sub	7918	C=0.4492	G=0.5508
The PAGE Study	NativeHawaiian	Sub	4534	C=0.6226	G=0.3774
The PAGE Study	Cuban	Sub	4224	C=0.5336	G=0.4664
The PAGE Study	Dominican	Sub	3826	C=0.4618	G=0.5382
The PAGE Study	CentralAmerican	Sub	2448	C=0.4236	G=0.5764
The PAGE Study	SouthAmerican	Sub	1982	C=0.4299	G=0.5701
The PAGE Study	NativeAmerican	Sub	1260	C=0.5063	G=0.4937
The PAGE Study	SouthAsian	Sub	854	C=0.368	G=0.632
8.3KJPN	JAPANESE	Study-wide	16758	C=0.40775	G=0.59225
GO Exome Sequencing Project	Global	Study-wide	13002	C=0.50131	G=0.49869
GO Exome Sequencing Project	European American	Sub	8596	C=0.5827	G=0.4173
GO Exome Sequencing Project	African American	Sub	4406	C=0.3425	G=0.6575
1000Genomes_30x	Global	Study-wide	6404	C=0.4054	G=0.5946
1000Genomes_30x	African	Sub	1786	C=0.3135	G=0.6865
1000Genomes_30x	Europe	Sub	1266	C=0.6019	G=0.3981
1000Genomes_30x	South Asian	Sub	1202	C=0.3611	G=0.6389
1000Genomes_30x	East Asian	Sub	1170	C=0.3427	G=0.6573
1000Genomes_30x	American	Sub	980	C=0.448	G=0.552
1000Genomes	Global	Study-wide	5008	C=0.4050	G=0.5950
1000Genomes	African	Sub	1322	C=0.3192	G=0.6808
1000Genomes	East Asian	Sub	1008	C=0.3492	G=0.6508
1000Genomes	Europe	Sub	1006	C=0.5984	G=0.4016
1000Genomes	South Asian	Sub	978	C=0.361	G=0.639
1000Genomes	American	Sub	694	C=0.431	G=0.569
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6393	G=0.3607
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5729	G=0.4271
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5841	G=0.4159
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3423	A=0.0000, G=0.6577
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3335	G=0.6665
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.580	G=0.420
CNV burdens in cranial meningiomas	Global	Study-wide	772	C=0.337	G=0.663
CNV burdens in cranial meningiomas	CRM	Sub	772	C=0.337	G=0.663
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.357	G=0.643
Northern Sweden	ACPOP	Study-wide	600	C=0.600	G=0.400
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.620	G=0.380
SGDP_PRJ	Global	Study-wide	454	C=0.286	G=0.714
HapMap	Global	Study-wide	326	C=0.420	G=0.580
HapMap	African	Sub	120	C=0.192	G=0.808
HapMap	American	Sub	118	C=0.653	G=0.347
HapMap	Asian	Sub	88	C=0.42	G=0.58
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.661	G=0.339
Qatari	Global	Study-wide	216	C=0.537	G=0.463
The Danish reference pan genome	Danish	Study-wide	40	C=0.40	G=0.60
Siberian	Global	Study-wide	38	C=0.37	G=0.63

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.12229791C>A
GRCh38.p14 chr 7	NC_000007.14:g.12229791C>G
GRCh38.p14 chr 7	NC_000007.14:g.12229791C>T
GRCh37.p13 chr 7	NC_000007.13:g.12269417C>A
GRCh37.p13 chr 7	NC_000007.13:g.12269417C>G
GRCh37.p13 chr 7	NC_000007.13:g.12269417C>T

Gene: TMEM106B, transmembrane protein 106B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM106B transcript variant 2	NM_001134232.2:c.554C>A	T [ACC] > N [AAC]	Coding Sequence Variant
transmembrane protein 106B	NP_001127704.1:p.Thr185Asn	T (Thr) > N (Asn)	Missense Variant
TMEM106B transcript variant 2	NM_001134232.2:c.554C>G	T [ACC] > S [AGC]	Coding Sequence Variant
transmembrane protein 106B	NP_001127704.1:p.Thr185Ser	T (Thr) > S (Ser)	Missense Variant
TMEM106B transcript variant 2	NM_001134232.2:c.554C>T	T [ACC] > I [ATC]	Coding Sequence Variant
transmembrane protein 106B	NP_001127704.1:p.Thr185Ile	T (Thr) > I (Ile)	Missense Variant
TMEM106B transcript variant 1	NM_018374.4:c.554C>A	T [ACC] > N [AAC]	Coding Sequence Variant
transmembrane protein 106B	NP_060844.2:p.Thr185Asn	T (Thr) > N (Asn)	Missense Variant
TMEM106B transcript variant 1	NM_018374.4:c.554C>G	T [ACC] > S [AGC]	Coding Sequence Variant
transmembrane protein 106B	NP_060844.2:p.Thr185Ser	T (Thr) > S (Ser)	Missense Variant
TMEM106B transcript variant 1	NM_018374.4:c.554C>T	T [ACC] > I [ATC]	Coding Sequence Variant
transmembrane protein 106B	NP_060844.2:p.Thr185Ile	T (Thr) > I (Ile)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 1155565 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001518338.5	not provided	Benign
RCV001838673.3	Leukodystrophy, hypomyelinating, 16	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 7	NC_000007.14:g.12229791=	NC_000007.14:g.12229791C>A	NC_000007.14:g.12229791C>G	NC_000007.14:g.12229791C>T
GRCh37.p13 chr 7	NC_000007.13:g.12269417=	NC_000007.13:g.12269417C>A	NC_000007.13:g.12269417C>G	NC_000007.13:g.12269417C>T
TMEM106B transcript variant 1	NM_018374.4:c.554=	NM_018374.4:c.554C>A	NM_018374.4:c.554C>G	NM_018374.4:c.554C>T
TMEM106B transcript variant 1	NM_018374.3:c.554=	NM_018374.3:c.554C>A	NM_018374.3:c.554C>G	NM_018374.3:c.554C>T
TMEM106B transcript variant 2	NM_001134232.2:c.554=	NM_001134232.2:c.554C>A	NM_001134232.2:c.554C>G	NM_001134232.2:c.554C>T
TMEM106B transcript variant 2	NM_001134232.1:c.554=	NM_001134232.1:c.554C>A	NM_001134232.1:c.554C>G	NM_001134232.1:c.554C>T
transmembrane protein 106B	NP_060844.2:p.Thr185=	NP_060844.2:p.Thr185Asn	NP_060844.2:p.Thr185Ser	NP_060844.2:p.Thr185Ile
transmembrane protein 106B	NP_001127704.1:p.Thr185=	NP_001127704.1:p.Thr185Asn	NP_001127704.1:p.Thr185Ser	NP_001127704.1:p.Thr185Ile

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

148 SubSNP, 28 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss4390830	May 29, 2002 (105)
2	LEE	ss4404388	May 29, 2002 (105)
3	WI_SSAHASNP	ss6503717	Feb 20, 2003 (111)
4	WUGSC_SSAHASNP	ss14554269	Dec 05, 2003 (120)
5	CGAP-GAI	ss16243972	Feb 28, 2004 (121)
6	PERLEGEN	ss23345647	Sep 20, 2004 (123)
7	MGC_GENOME_DIFF	ss28508244	Sep 24, 2004 (126)
8	PERLEGEN	ss69005232	May 18, 2007 (127)
9	AFFY	ss74810853	Aug 16, 2007 (128)
10	HGSV	ss82950382	Dec 15, 2007 (130)
11	HGSV	ss83265148	Dec 15, 2007 (130)
12	HGSV	ss85515182	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss93629120	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss98133179	Feb 05, 2009 (130)
15	BGI	ss105493421	Feb 05, 2009 (130)
16	1000GENOMES	ss111523804	Jan 25, 2009 (130)
17	1000GENOMES	ss113320504	Jan 25, 2009 (130)
18	ENSEMBL	ss142660690	Dec 01, 2009 (131)
19	ENSEMBL	ss142851966	Dec 01, 2009 (131)
20	GMI	ss158049564	Dec 01, 2009 (131)
21	SEATTLESEQ	ss159714387	Dec 01, 2009 (131)
22	ILLUMINA	ss160615086	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss162054715	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss163648879	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss166148241	Jul 04, 2010 (132)
26	BUSHMAN	ss202952699	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208112507	Jul 04, 2010 (132)
28	1000GENOMES	ss222908296	Jul 14, 2010 (132)
29	1000GENOMES	ss233850456	Jul 15, 2010 (132)
30	1000GENOMES	ss240830431	Jul 15, 2010 (132)
31	BL	ss254054883	May 09, 2011 (134)
32	GMI	ss279186858	May 04, 2012 (137)
33	PJP	ss293990011	May 09, 2011 (134)
34	NHLBI-ESP	ss342231446	May 09, 2011 (134)
35	ILLUMINA	ss481674724	Sep 08, 2015 (146)
36	ILLUMINA	ss484332620	May 04, 2012 (137)
37	ILLUMINA	ss485339153	May 04, 2012 (137)
38	1000GENOMES	ss490941845	May 04, 2012 (137)
39	EXOME_CHIP	ss491396693	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491902755	May 04, 2012 (137)
41	ILLUMINA	ss536515808	Sep 08, 2015 (146)
42	TISHKOFF	ss559807324	Apr 25, 2013 (138)
43	SSMP	ss654155738	Apr 25, 2013 (138)
44	ILLUMINA	ss779532050	Aug 21, 2014 (142)
45	ILLUMINA	ss780857564	Aug 21, 2014 (142)
46	ILLUMINA	ss782612538	Aug 21, 2014 (142)
47	ILLUMINA	ss783541810	Aug 21, 2014 (142)
48	ILLUMINA	ss835002622	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss974463473	Aug 21, 2014 (142)
50	EVA-GONL	ss983950096	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1067486261	Aug 21, 2014 (142)
52	JMKIDD_LAB	ss1074361643	Aug 21, 2014 (142)
53	1000GENOMES	ss1323930864	Aug 21, 2014 (142)
54	DDI	ss1431028878	Apr 01, 2015 (144)
55	EVA_GENOME_DK	ss1582071355	Apr 01, 2015 (144)
56	EVA_FINRISK	ss1584051264	Apr 01, 2015 (144)
57	EVA_DECODE	ss1593514711	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1617573142	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1660567175	Apr 01, 2015 (144)
60	EVA_EXAC	ss1688651637	Apr 01, 2015 (144)
61	EVA_MGP	ss1711155451	Apr 01, 2015 (144)
62	ILLUMINA	ss1752661640	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1804868402	Sep 08, 2015 (146)
64	ILLUMINA	ss1917814839	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1927195809	Feb 12, 2016 (147)
66	ILLUMINA	ss1946201925	Feb 12, 2016 (147)
67	ILLUMINA	ss1958987605	Feb 12, 2016 (147)
68	GENOMED	ss1970624637	Jul 19, 2016 (147)
69	JJLAB	ss2024270049	Sep 14, 2016 (149)
70	USC_VALOUEV	ss2152468582	Dec 20, 2016 (150)
71	HUMAN_LONGEVITY	ss2291666802	Dec 20, 2016 (150)
72	SYSTEMSBIOZJU	ss2626624893	Nov 08, 2017 (151)
73	ILLUMINA	ss2634566432	Nov 08, 2017 (151)
74	ILLUMINA	ss2635168105	Nov 08, 2017 (151)
75	GRF	ss2708119186	Nov 08, 2017 (151)
76	GNOMAD	ss2736301366	Nov 08, 2017 (151)
77	GNOMAD	ss2747780331	Nov 08, 2017 (151)
78	GNOMAD	ss2849768433	Nov 08, 2017 (151)
79	AFFY	ss2985399762	Nov 08, 2017 (151)
80	AFFY	ss2986030106	Nov 08, 2017 (151)
81	SWEGEN	ss3000628954	Nov 08, 2017 (151)
82	ILLUMINA	ss3022707879	Nov 08, 2017 (151)
83	EVA_SAMSUNG_MC	ss3023062760	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3025929077	Nov 08, 2017 (151)
85	CSHL	ss3347437612	Nov 08, 2017 (151)
86	ILLUMINA	ss3629750854	Oct 12, 2018 (152)
87	ILLUMINA	ss3629750855	Oct 12, 2018 (152)
88	ILLUMINA	ss3632476263	Oct 12, 2018 (152)
89	ILLUMINA	ss3635107664	Oct 12, 2018 (152)
90	ILLUMINA	ss3636837689	Oct 12, 2018 (152)
91	ILLUMINA	ss3640814960	Oct 12, 2018 (152)
92	ILLUMINA	ss3644935027	Oct 12, 2018 (152)
93	OMUKHERJEE_ADBS	ss3646349353	Oct 12, 2018 (152)
94	URBANLAB	ss3648562955	Oct 12, 2018 (152)
95	ILLUMINA	ss3653235394	Oct 12, 2018 (152)
96	ILLUMINA	ss3654160093	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3668548422	Jul 13, 2019 (153)
98	EVA_DECODE	ss3719103040	Jul 13, 2019 (153)
99	ILLUMINA	ss3726420011	Jul 13, 2019 (153)
100	ACPOP	ss3734358871	Jul 13, 2019 (153)
101	ILLUMINA	ss3744565470	Jul 13, 2019 (153)
102	ILLUMINA	ss3745407551	Jul 13, 2019 (153)
103	EVA	ss3766188948	Jul 13, 2019 (153)
104	PAGE_CC	ss3771351085	Jul 13, 2019 (153)
105	ILLUMINA	ss3772900759	Jul 13, 2019 (153)
106	PACBIO	ss3785734358	Jul 13, 2019 (153)
107	PACBIO	ss3791048458	Jul 13, 2019 (153)
108	PACBIO	ss3795928155	Jul 13, 2019 (153)
109	KHV_HUMAN_GENOMES	ss3809355040	Jul 13, 2019 (153)
110	EVA	ss3824258066	Apr 26, 2020 (154)
111	EVA	ss3825523968	Apr 26, 2020 (154)
112	EVA	ss3825715257	Apr 26, 2020 (154)
113	EVA	ss3830415240	Apr 26, 2020 (154)
114	EVA	ss3838693712	Apr 26, 2020 (154)
115	EVA	ss3844144457	Apr 26, 2020 (154)
116	SGDP_PRJ	ss3866632136	Apr 26, 2020 (154)
117	KRGDB	ss3913658066	Apr 26, 2020 (154)
118	KOGIC	ss3960887967	Apr 26, 2020 (154)
119	FSA-LAB	ss3984360187	Apr 26, 2021 (155)
120	FSA-LAB	ss3984360188	Apr 26, 2021 (155)
121	EVA	ss3984583327	Apr 26, 2021 (155)
122	EVA	ss3986038679	Apr 26, 2021 (155)
123	EVA	ss3986374046	Apr 26, 2021 (155)
124	TOPMED	ss4735591797	Apr 26, 2021 (155)
125	TOMMO_GENOMICS	ss5181815149	Apr 26, 2021 (155)
126	EVA	ss5237031374	Apr 26, 2021 (155)
127	EVA	ss5237194964	Apr 26, 2021 (155)
128	1000G_HIGH_COVERAGE	ss5271829782	Oct 14, 2022 (156)
129	EVA	ss5315223817	Oct 14, 2022 (156)
130	EVA	ss5371652700	Oct 14, 2022 (156)
131	HUGCELL_USP	ss5469114178	Oct 14, 2022 (156)
132	EVA	ss5508848675	Oct 14, 2022 (156)
133	1000G_HIGH_COVERAGE	ss5559468723	Oct 14, 2022 (156)
134	EVA	ss5623939457	Oct 14, 2022 (156)
135	EVA	ss5624164273	Oct 14, 2022 (156)
136	SANFORD_IMAGENETICS	ss5642345682	Oct 14, 2022 (156)
137	TOMMO_GENOMICS	ss5721270399	Oct 14, 2022 (156)
138	TOMMO_GENOMICS	ss5721270400	Oct 14, 2022 (156)
139	EVA	ss5800137384	Oct 14, 2022 (156)
140	YY_MCH	ss5808335502	Oct 14, 2022 (156)
141	EVA	ss5822410467	Oct 14, 2022 (156)
142	EVA	ss5848128255	Oct 14, 2022 (156)
143	EVA	ss5848677104	Oct 14, 2022 (156)
144	EVA	ss5855763095	Oct 14, 2022 (156)
145	EVA	ss5857707076	Oct 14, 2022 (156)
146	EVA	ss5936534343	Oct 14, 2022 (156)
147	EVA	ss5971536393	Oct 14, 2022 (156)
148	EVA	ss5981241171	Oct 14, 2022 (156)
149	1000Genomes	NC_000007.13 - 12269417	Oct 12, 2018 (152)
150	1000Genomes_30x	NC_000007.14 - 12229791	Oct 14, 2022 (156)
151	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 12269417	Oct 12, 2018 (152)
152	Genetic variation in the Estonian population	NC_000007.13 - 12269417	Oct 12, 2018 (152)
153	ExAC	NC_000007.13 - 12269417	Oct 12, 2018 (152)
154	FINRISK	NC_000007.13 - 12269417	Apr 26, 2020 (154)
155	The Danish reference pan genome	NC_000007.13 - 12269417	Apr 26, 2020 (154)
156	gnomAD - Genomes	NC_000007.14 - 12229791	Apr 26, 2021 (155)
157	gnomAD - Exomes	NC_000007.13 - 12269417	Jul 13, 2019 (153)
158	GO Exome Sequencing Project	NC_000007.13 - 12269417	Oct 12, 2018 (152)
159	Genome of the Netherlands Release 5	NC_000007.13 - 12269417	Apr 26, 2020 (154)
160	HapMap	NC_000007.14 - 12229791	Apr 26, 2020 (154)
161	KOREAN population from KRGDB	NC_000007.13 - 12269417	Apr 26, 2020 (154)
162	Korean Genome Project	NC_000007.14 - 12229791	Apr 26, 2020 (154)
163	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 12269417	Apr 26, 2020 (154)
164	Northern Sweden	NC_000007.13 - 12269417	Jul 13, 2019 (153)
165	The PAGE Study	NC_000007.14 - 12229791	Jul 13, 2019 (153)
166	CNV burdens in cranial meningiomas	NC_000007.13 - 12269417	Apr 26, 2021 (155)
167	Qatari	NC_000007.13 - 12269417	Apr 26, 2020 (154)
168	SGDP_PRJ	NC_000007.13 - 12269417	Apr 26, 2020 (154)
169	Siberian	NC_000007.13 - 12269417	Apr 26, 2020 (154)
170	8.3KJPN	NC_000007.13 - 12269417	Apr 26, 2021 (155)
171	14KJPN Submission ignored due to conflicting rows: Row 55107503 (NC_000007.14:12229790:C:G 16706/28258) Row 55107504 (NC_000007.14:12229790:C:T 1/28258)	-	Oct 14, 2022 (156)
172	14KJPN Submission ignored due to conflicting rows: Row 55107503 (NC_000007.14:12229790:C:G 16706/28258) Row 55107504 (NC_000007.14:12229790:C:T 1/28258)	-	Oct 14, 2022 (156)
173	TopMed	NC_000007.14 - 12229791	Apr 26, 2021 (155)
174	UK 10K study - Twins	NC_000007.13 - 12269417	Oct 12, 2018 (152)
175	A Vietnamese Genetic Variation Database	NC_000007.13 - 12269417	Jul 13, 2019 (153)
176	ALFA	NC_000007.14 - 12229791	Apr 26, 2021 (155)
177	ClinVar	RCV001518338.5	Oct 14, 2022 (156)
178	ClinVar	RCV001838673.3	Oct 14, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs10348977	Feb 27, 2004 (120)
rs11546466	Apr 05, 2004 (121)
rs17149904	Oct 08, 2004 (123)
rs17853942	Mar 10, 2006 (126)
rs52789343	Sep 21, 2007 (128)
rs59821228	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
20835460, ss3913658066	NC_000007.13:12269416:C:A	NC_000007.14:12229790:C:A	(self)
10978018949	NC_000007.14:12229790:C:A	NC_000007.14:12229790:C:A	(self)
ss82950382, ss83265148, ss85515182	NC_000007.11:12042656:C:G	NC_000007.14:12229790:C:G	(self)
ss93629120, ss111523804, ss113320504, ss162054715, ss163648879, ss166148241, ss202952699, ss208112507, ss254054883, ss279186858, ss293990011, ss485339153, ss491902755, ss1593514711, ss2635168105	NC_000007.12:12235941:C:G	NC_000007.14:12229790:C:G	(self)
35858976, 19989223, 14286670, 8710480, 47725, 8236294, 5459167, 716050, 8908182, 20835460, 271211, 7643736, 132746, 9237739, 18649116, 4984936, 39784456, 19989223, 4450853, ss222908296, ss233850456, ss240830431, ss342231446, ss481674724, ss484332620, ss490941845, ss491396693, ss536515808, ss559807324, ss654155738, ss779532050, ss780857564, ss782612538, ss783541810, ss835002622, ss974463473, ss983950096, ss1067486261, ss1074361643, ss1323930864, ss1431028878, ss1582071355, ss1584051264, ss1617573142, ss1660567175, ss1688651637, ss1711155451, ss1752661640, ss1804868402, ss1917814839, ss1927195809, ss1946201925, ss1958987605, ss1970624637, ss2024270049, ss2152468582, ss2626624893, ss2634566432, ss2708119186, ss2736301366, ss2747780331, ss2849768433, ss2985399762, ss2986030106, ss3000628954, ss3022707879, ss3023062760, ss3347437612, ss3629750854, ss3629750855, ss3632476263, ss3635107664, ss3636837689, ss3640814960, ss3644935027, ss3646349353, ss3653235394, ss3654160093, ss3668548422, ss3734358871, ss3744565470, ss3745407551, ss3766188948, ss3772900759, ss3785734358, ss3791048458, ss3795928155, ss3824258066, ss3825523968, ss3825715257, ss3830415240, ss3838693712, ss3866632136, ss3913658066, ss3984360187, ss3984360188, ss3984583327, ss3986038679, ss3986374046, ss5181815149, ss5315223817, ss5371652700, ss5508848675, ss5623939457, ss5624164273, ss5642345682, ss5800137384, ss5822410467, ss5848128255, ss5848677104, ss5936534343, ss5971536393, ss5981241171	NC_000007.13:12269416:C:G	NC_000007.14:12229790:C:G	(self)
RCV001518338.5, RCV001838673.3, 46994658, 252897056, 3335300, 17265968, 572554, 572969356, 10978018949, ss2291666802, ss3025929077, ss3648562955, ss3719103040, ss3726420011, ss3771351085, ss3809355040, ss3844144457, ss3960887967, ss4735591797, ss5237031374, ss5237194964, ss5271829782, ss5469114178, ss5559468723, ss5721270399, ss5808335502, ss5855763095, ss5857707076	NC_000007.14:12229790:C:G	NC_000007.14:12229790:C:G	(self)
ss14554269	NT_007819.14:11565089:C:G	NC_000007.14:12229790:C:G	(self)
ss4390830, ss4404388, ss6503717, ss16243972, ss23345647, ss28508244, ss69005232, ss74810853, ss98133179, ss105493421, ss142660690, ss142851966, ss158049564, ss159714387, ss160615086	NT_007819.17:12259416:C:G	NC_000007.14:12229790:C:G	(self)
ss5721270400	NC_000007.14:12229790:C:T	NC_000007.14:12229790:C:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

17 citations for rs3173615

PMID	Title	Author	Year	Journal
21178100	TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.	Finch N et al.	2011	Neurology
21220649	Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.	Cruchaga C et al.	2011	Archives of neurology
21354975	TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.	van der Zee J et al.	2011	Brain
21614538	TMEM106B a novel risk factor for frontotemporal lobar degeneration.	van der Zee J et al.	2011	Journal of molecular neuroscience
24373676	Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.	McMillan CT et al.	2014	Neurobiology of aging
24385136	TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.	van Blitterswijk M et al.	2014	Acta neuropathologica
25778476	A novel Alzheimer disease locus located near the gene encoding tau protein.	Jun G et al.	2016	Molecular psychiatry
26518018	Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank.	Bieniek KF et al.	2015	Acta neuropathologica
26651479	TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.	Jun MH et al.	2015	Molecular brain
28477711	Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy.	Hu T et al.	2017	Journal of the neurological sciences
28888721	TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).	Rostgaard N et al.	2017	Neurobiology of aging
29926172	Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.	Koga S et al.	2018	Acta neuropathologica
29970152	TMEM106B haplotypes have distinct gene expression patterns in aged brain.	Ren Y et al.	2018	Molecular neurodegeneration
30390709	Variation in TMEM106B in chronic traumatic encephalopathy.	Cherry JD et al.	2018	Acta neuropathologica communications
30604226	Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains.	Josephs KA et al.	2019	Acta neuropathologica
31456032	The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.	Li Z et al.	2020	Acta neuropathologica
33926499	Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.	Seto M et al.	2021	Molecular neurodegeneration

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3173615