Name: rs633408
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.

rs633408

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:167777565 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.211296 (55928/264690, TOPMED)
G=0.209043 (29261/139976, GnomAD)
G=0.12343 (3488/28258, 14KJPN) (+ 16 more)
G=0.18407 (3477/18890, ALFA)
G=0.12357 (2071/16760, 8.3KJPN)
G=0.2275 (1457/6404, 1000G_30x)
G=0.2224 (1114/5008, 1000G)
G=0.1886 (845/4480, Estonian)
G=0.1331 (513/3854, ALSPAC)
G=0.1297 (481/3708, TWINSUK)
G=0.0986 (289/2930, KOREAN)
G=0.0890 (163/1832, Korea1K)
G=0.128 (128/998, GoNL)
G=0.190 (114/600, NorthernSweden)
G=0.130 (28/216, Qatari)
G=0.142 (30/212, Vietnamese)
C=0.449 (71/158, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
C=0.46 (11/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 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	18890	C=0.81593	G=0.18407
European	Sub	14286	C=0.84551	G=0.15449
African	Sub	2946	C=0.6864	G=0.3136
African Others	Sub	114	C=0.623	G=0.377
African American	Sub	2832	C=0.6889	G=0.3111
Asian	Sub	112	C=0.804	G=0.196
East Asian	Sub	86	C=0.84	G=0.16
Other Asian	Sub	26	C=0.69	G=0.31
Latin American 1	Sub	146	C=0.788	G=0.212
Latin American 2	Sub	610	C=0.759	G=0.241
South Asian	Sub	98	C=0.81	G=0.19
Other	Sub	692	C=0.816	G=0.184

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=0.788704	G=0.211296
gnomAD - Genomes	Global	Study-wide	139976	C=0.790957	G=0.209043
gnomAD - Genomes	European	Sub	75874	C=0.85293	G=0.14707
gnomAD - Genomes	African	Sub	41888	C=0.67220	G=0.32780
gnomAD - Genomes	American	Sub	13618	C=0.77963	G=0.22037
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8411	G=0.1589
gnomAD - Genomes	East Asian	Sub	3128	C=0.8651	G=0.1349
gnomAD - Genomes	Other	Sub	2146	C=0.8043	G=0.1957
14KJPN	JAPANESE	Study-wide	28258	C=0.87657	G=0.12343
Allele Frequency Aggregator	Total	Global	18890	C=0.81593	G=0.18407
Allele Frequency Aggregator	European	Sub	14286	C=0.84551	G=0.15449
Allele Frequency Aggregator	African	Sub	2946	C=0.6864	G=0.3136
Allele Frequency Aggregator	Other	Sub	692	C=0.816	G=0.184
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.759	G=0.241
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.788	G=0.212
Allele Frequency Aggregator	Asian	Sub	112	C=0.804	G=0.196
Allele Frequency Aggregator	South Asian	Sub	98	C=0.81	G=0.19
8.3KJPN	JAPANESE	Study-wide	16760	C=0.87643	G=0.12357
1000Genomes_30x	Global	Study-wide	6404	C=0.7725	G=0.2275
1000Genomes_30x	African	Sub	1786	C=0.6389	G=0.3611
1000Genomes_30x	Europe	Sub	1266	C=0.8610	G=0.1390
1000Genomes_30x	South Asian	Sub	1202	C=0.7928	G=0.2072
1000Genomes_30x	East Asian	Sub	1170	C=0.8761	G=0.1239
1000Genomes_30x	American	Sub	980	C=0.753	G=0.247
1000Genomes	Global	Study-wide	5008	C=0.7776	G=0.2224
1000Genomes	African	Sub	1322	C=0.6407	G=0.3593
1000Genomes	East Asian	Sub	1008	C=0.8790	G=0.1210
1000Genomes	Europe	Sub	1006	C=0.8628	G=0.1372
1000Genomes	South Asian	Sub	978	C=0.789	G=0.211
1000Genomes	American	Sub	694	C=0.751	G=0.249
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8114	G=0.1886
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8669	G=0.1331
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8703	G=0.1297
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9014	G=0.0986
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9110	G=0.0890
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.872	G=0.128
Northern Sweden	ACPOP	Study-wide	600	C=0.810	G=0.190
Qatari	Global	Study-wide	216	C=0.870	G=0.130
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.858	G=0.142
SGDP_PRJ	Global	Study-wide	158	C=0.449	G=0.551
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	G=0.15
Siberian	Global	Study-wide	24	C=0.46	G=0.54

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 6	NC_000006.12:g.167777565C>G
GRCh37.p13 chr 6	NC_000006.11:g.168178245C>G

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.

Not Reported in ClinVar

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=	G
GRCh38.p14 chr 6	NC_000006.12:g.167777565=	NC_000006.12:g.167777565C>G
GRCh37.p13 chr 6	NC_000006.11:g.168178245=	NC_000006.11:g.168178245C>G

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#.

59 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss806040	Aug 11, 2000 (83)
2	TSC-CSHL	ss1313549	Oct 04, 2000 (86)
3	SC_SNP	ss13073920	Dec 05, 2003 (119)
4	GMI	ss157900860	Dec 01, 2009 (131)
5	COMPLETE_GENOMICS	ss165252827	Jul 04, 2010 (132)
6	BUSHMAN	ss202768406	Jul 04, 2010 (132)
7	BCM-HGSC-SUB	ss207721910	Jul 04, 2010 (132)
8	GMI	ss279130841	May 04, 2012 (137)
9	PJP	ss293789209	May 09, 2011 (134)
10	1000GENOMES	ss333821265	May 09, 2011 (134)
11	TISHKOFF	ss559711208	Apr 25, 2013 (138)
12	SSMP	ss654055188	Apr 25, 2013 (138)
13	EVA-GONL	ss983793718	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1074254695	Aug 21, 2014 (142)
15	1000GENOMES	ss1323375832	Aug 21, 2014 (142)
16	DDI	ss1430980629	Apr 01, 2015 (144)
17	EVA_GENOME_DK	ss1582011042	Apr 01, 2015 (144)
18	EVA_DECODE	ss1593367556	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1617292558	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1660286591	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1804801515	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1927035221	Feb 12, 2016 (147)
23	GENOMED	ss1970591541	Jul 19, 2016 (147)
24	JJLAB	ss2024186262	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2152381943	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2290662144	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2626584541	Nov 08, 2017 (151)
28	GRF	ss2708025288	Nov 08, 2017 (151)
29	GNOMAD	ss2848212959	Nov 08, 2017 (151)
30	SWEGEN	ss3000394353	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3025887121	Nov 08, 2017 (151)
32	CSHL	ss3347360965	Nov 08, 2017 (151)
33	EGCUT_WGS	ss3668333634	Jul 13, 2019 (153)
34	EVA_DECODE	ss3718823785	Jul 13, 2019 (153)
35	ACPOP	ss3734229535	Jul 13, 2019 (153)
36	EVA	ss3766014528	Jul 13, 2019 (153)
37	PACBIO	ss3785695169	Jul 13, 2019 (153)
38	PACBIO	ss3791011459	Jul 13, 2019 (153)
39	PACBIO	ss3795891042	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3809179774	Jul 13, 2019 (153)
41	EVA	ss3830338092	Apr 26, 2020 (154)
42	SGDP_PRJ	ss3866301493	Apr 26, 2020 (154)
43	KRGDB	ss3913298588	Apr 26, 2020 (154)
44	KOGIC	ss3960611410	Apr 26, 2020 (154)
45	TOPMED	ss4731135318	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5181165233	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5271322746	Oct 14, 2022 (156)
48	EVA	ss5370775160	Oct 14, 2022 (156)
49	HUGCELL_USP	ss5468675030	Oct 14, 2022 (156)
50	EVA	ss5508804794	Oct 14, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5558742165	Oct 14, 2022 (156)
52	SANFORD_IMAGENETICS	ss5642052149	Oct 14, 2022 (156)
53	TOMMO_GENOMICS	ss5720409098	Oct 14, 2022 (156)
54	YY_MCH	ss5808203122	Oct 14, 2022 (156)
55	EVA	ss5843372827	Oct 14, 2022 (156)
56	EVA	ss5855702650	Oct 14, 2022 (156)
57	EVA	ss5887072759	Oct 14, 2022 (156)
58	EVA	ss5971208404	Oct 14, 2022 (156)
59	EVA	ss5971208405	Oct 14, 2022 (156)
60	1000Genomes	NC_000006.11 - 168178245	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000006.12 - 167777565	Oct 14, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 168178245	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000006.11 - 168178245	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000006.11 - 168178245	Apr 26, 2020 (154)
65	gnomAD - Genomes	NC_000006.12 - 167777565	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000006.11 - 168178245	Apr 26, 2020 (154)
67	KOREAN population from KRGDB	NC_000006.11 - 168178245	Apr 26, 2020 (154)
68	Korean Genome Project	NC_000006.12 - 167777565	Apr 26, 2020 (154)
69	Northern Sweden	NC_000006.11 - 168178245	Jul 13, 2019 (153)
70	Qatari	NC_000006.11 - 168178245	Apr 26, 2020 (154)
71	SGDP_PRJ	NC_000006.11 - 168178245	Apr 26, 2020 (154)
72	Siberian	NC_000006.11 - 168178245	Apr 26, 2020 (154)
73	8.3KJPN	NC_000006.11 - 168178245	Apr 26, 2021 (155)
74	14KJPN	NC_000006.12 - 167777565	Oct 14, 2022 (156)
75	TopMed	NC_000006.12 - 167777565	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000006.11 - 168178245	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000006.11 - 168178245	Jul 13, 2019 (153)
78	ALFA	NC_000006.12 - 167777565	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss165252827, ss202768406, ss207721910, ss279130841, ss293789209, ss1593367556	NC_000006.10:167921093:C:G	NC_000006.12:167777564:C:G	(self)
35286445, 19682913, 14071882, 8175981, 8761170, 20475982, 7514400, 9077151, 18318473, 4898297, 39134540, 19682913, 4382260, ss333821265, ss559711208, ss654055188, ss983793718, ss1074254695, ss1323375832, ss1430980629, ss1582011042, ss1617292558, ss1660286591, ss1804801515, ss1927035221, ss1970591541, ss2024186262, ss2152381943, ss2626584541, ss2708025288, ss2848212959, ss3000394353, ss3347360965, ss3668333634, ss3734229535, ss3766014528, ss3785695169, ss3791011459, ss3795891042, ss3830338092, ss3866301493, ss3913298588, ss5181165233, ss5370775160, ss5508804794, ss5642052149, ss5843372827, ss5971208404, ss5971208405	NC_000006.11:168178244:C:G	NC_000006.12:167777564:C:G	(self)
46268100, 248996221, 16989411, 54246202, 568512876, 1686496679, ss2290662144, ss3025887121, ss3718823785, ss3809179774, ss3960611410, ss4731135318, ss5271322746, ss5468675030, ss5558742165, ss5720409098, ss5808203122, ss5855702650, ss5887072759	NC_000006.12:167777564:C:G	NC_000006.12:167777564:C:G	(self)
ss13073920	NT_007302.11:130454:C:G	NC_000006.12:167777564:C:G	(self)
ss806040, ss1313549, ss157900860	NT_025741.15:72347701:C:G	NC_000006.12:167777564:C:G	(self)

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

No publications for rs633408

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs633408