Name: rs2020996
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.

rs2020996

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:77185008 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.406018 (107469/264690, TOPMED)
G=0.322879 (78984/244624, ALFA)
G=0.401801 (56269/140042, GnomAD) (+ 18 more)
G=0.42927 (33764/78654, PAGE_STUDY)
G=0.16254 (4593/28258, 14KJPN)
G=0.16038 (2688/16760, 8.3KJPN)
G=0.3969 (2542/6404, 1000G_30x)
G=0.3866 (1936/5008, 1000G)
G=0.2817 (1262/4480, Estonian)
G=0.3142 (1211/3854, ALSPAC)
G=0.3174 (1177/3708, TWINSUK)
G=0.1481 (434/2930, KOREAN)
G=0.1692 (310/1832, Korea1K)
G=0.345 (344/998, GoNL)
G=0.191 (149/782, PRJEB37584)
G=0.295 (177/600, NorthernSweden)
G=0.227 (110/484, SGDP_PRJ)
G=0.459 (144/314, HapMap)
G=0.310 (67/216, Qatari)
G=0.21 (11/52, Siberian)
G=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM63C : Intron Variant
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	249658	G=0.324464	A=0.675536
European	Sub	220580	G=0.315990	A=0.684010
African	Sub	7964	G=0.6190	A=0.3810
African Others	Sub	316	G=0.696	A=0.304
African American	Sub	7648	G=0.6158	A=0.3842
Asian	Sub	3842	G=0.2257	A=0.7743
East Asian	Sub	3112	G=0.1745	A=0.8255
Other Asian	Sub	730	G=0.444	A=0.556
Latin American 1	Sub	1028	G=0.3813	A=0.6187
Latin American 2	Sub	6586	G=0.2633	A=0.7367
South Asian	Sub	366	G=0.322	A=0.678
Other	Sub	9292	G=0.3512	A=0.6488

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	G=0.406018	A=0.593982
Allele Frequency Aggregator	Total	Global	244624	G=0.322879	A=0.677121
Allele Frequency Aggregator	European	Sub	217488	G=0.315958	A=0.684042
Allele Frequency Aggregator	Other	Sub	8492	G=0.3486	A=0.6514
Allele Frequency Aggregator	African	Sub	6822	G=0.6151	A=0.3849
Allele Frequency Aggregator	Latin American 2	Sub	6586	G=0.2633	A=0.7367
Allele Frequency Aggregator	Asian	Sub	3842	G=0.2257	A=0.7743
Allele Frequency Aggregator	Latin American 1	Sub	1028	G=0.3813	A=0.6187
Allele Frequency Aggregator	South Asian	Sub	366	G=0.322	A=0.678
gnomAD - Genomes	Global	Study-wide	140042	G=0.401801	A=0.598199
gnomAD - Genomes	European	Sub	75866	G=0.30649	A=0.69351
gnomAD - Genomes	African	Sub	41936	G=0.61756	A=0.38244
gnomAD - Genomes	American	Sub	13652	G=0.32508	A=0.67492
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.3537	A=0.6463
gnomAD - Genomes	East Asian	Sub	3122	G=0.2194	A=0.7806
gnomAD - Genomes	Other	Sub	2144	G=0.3829	A=0.6171
The PAGE Study	Global	Study-wide	78654	G=0.42927	A=0.57073
The PAGE Study	AfricanAmerican	Sub	32502	G=0.60895	A=0.39105
The PAGE Study	Mexican	Sub	10806	G=0.27374	A=0.72626
The PAGE Study	Asian	Sub	8310	G=0.1856	A=0.8144
The PAGE Study	PuertoRican	Sub	7908	G=0.3619	A=0.6381
The PAGE Study	NativeHawaiian	Sub	4532	G=0.2743	A=0.7257
The PAGE Study	Cuban	Sub	4228	G=0.3562	A=0.6438
The PAGE Study	Dominican	Sub	3822	G=0.4589	A=0.5411
The PAGE Study	CentralAmerican	Sub	2450	G=0.3416	A=0.6584
The PAGE Study	SouthAmerican	Sub	1980	G=0.2914	A=0.7086
The PAGE Study	NativeAmerican	Sub	1260	G=0.3460	A=0.6540
The PAGE Study	SouthAsian	Sub	856	G=0.300	A=0.700
14KJPN	JAPANESE	Study-wide	28258	G=0.16254	A=0.83746
8.3KJPN	JAPANESE	Study-wide	16760	G=0.16038	A=0.83962
1000Genomes_30x	Global	Study-wide	6404	G=0.3969	A=0.6031
1000Genomes_30x	African	Sub	1786	G=0.6809	A=0.3191
1000Genomes_30x	Europe	Sub	1266	G=0.3254	A=0.6746
1000Genomes_30x	South Asian	Sub	1202	G=0.2962	A=0.7038
1000Genomes_30x	East Asian	Sub	1170	G=0.2368	A=0.7632
1000Genomes_30x	American	Sub	980	G=0.287	A=0.713
1000Genomes	Global	Study-wide	5008	G=0.3866	A=0.6134
1000Genomes	African	Sub	1322	G=0.6785	A=0.3215
1000Genomes	East Asian	Sub	1008	G=0.2312	A=0.7688
1000Genomes	Europe	Sub	1006	G=0.3121	A=0.6879
1000Genomes	South Asian	Sub	978	G=0.294	A=0.706
1000Genomes	American	Sub	694	G=0.294	A=0.706
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2817	A=0.7183
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3142	A=0.6858
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3174	A=0.6826
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.1481	A=0.8519
Korean Genome Project	KOREAN	Study-wide	1832	G=0.1692	A=0.8308
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.345	A=0.655
CNV burdens in cranial meningiomas	Global	Study-wide	782	G=0.191	A=0.809
CNV burdens in cranial meningiomas	CRM	Sub	782	G=0.191	A=0.809
Northern Sweden	ACPOP	Study-wide	600	G=0.295	A=0.705
SGDP_PRJ	Global	Study-wide	484	G=0.227	A=0.773
HapMap	Global	Study-wide	314	G=0.459	A=0.541
HapMap	African	Sub	118	G=0.754	A=0.246
HapMap	American	Sub	108	G=0.380	A=0.620
HapMap	Asian	Sub	88	G=0.16	A=0.84
Qatari	Global	Study-wide	216	G=0.310	A=0.690
Siberian	Global	Study-wide	52	G=0.21	A=0.79
The Danish reference pan genome	Danish	Study-wide	40	G=0.25	A=0.75

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 14	NC_000014.9:g.77185008G>A
GRCh37.p13 chr 14	NC_000014.8:g.77651351G>A

Gene: TMEM63C, transmembrane protein 63C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM63C transcript	NM_020431.4:c.-77+3114G>A	N/A	Intron 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.

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	G=	A
GRCh38.p14 chr 14	NC_000014.9:g.77185008=	NC_000014.9:g.77185008G>A
GRCh37.p13 chr 14	NC_000014.8:g.77651351=	NC_000014.8:g.77651351G>A
TMEM63C transcript	NM_020431.2:c.-77+3114=	NM_020431.2:c.-77+3114G>A
TMEM63C transcript	NM_020431.4:c.-77+3114=	NM_020431.4:c.-77+3114G>A

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#.

114 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2924132	Apr 12, 2001 (94)
2	WI_SSAHASNP	ss6776662	Feb 20, 2003 (111)
3	ABI	ss43583800	Mar 13, 2006 (126)
4	PERLEGEN	ss69162816	May 17, 2007 (127)
5	BCMHGSC_JDW	ss90001175	Mar 24, 2008 (129)
6	HUMANGENOME_JCVI	ss96929310	Feb 06, 2009 (130)
7	BGI	ss106399707	Feb 06, 2009 (130)
8	1000GENOMES	ss108472663	Jan 23, 2009 (130)
9	1000GENOMES	ss113556933	Jan 25, 2009 (130)
10	ENSEMBL	ss134060154	Dec 01, 2009 (131)
11	ENSEMBL	ss136995606	Dec 01, 2009 (131)
12	GMI	ss156005216	Dec 01, 2009 (131)
13	ILLUMINA	ss160489409	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss169985972	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss171345219	Jul 04, 2010 (132)
16	BUSHMAN	ss200287478	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss206919442	Jul 04, 2010 (132)
18	1000GENOMES	ss226660926	Jul 14, 2010 (132)
19	1000GENOMES	ss236610233	Jul 15, 2010 (132)
20	1000GENOMES	ss243030590	Jul 15, 2010 (132)
21	BL	ss255118852	May 09, 2011 (134)
22	GMI	ss282070965	May 04, 2012 (137)
23	GMI	ss286872747	Apr 25, 2013 (138)
24	PJP	ss291632950	May 09, 2011 (134)
25	ILLUMINA	ss480383731	May 04, 2012 (137)
26	ILLUMINA	ss480396389	May 04, 2012 (137)
27	ILLUMINA	ss481173066	Sep 08, 2015 (146)
28	ILLUMINA	ss484989448	May 04, 2012 (137)
29	ILLUMINA	ss537023721	Sep 08, 2015 (146)
30	TISHKOFF	ss564200005	Apr 25, 2013 (138)
31	SSMP	ss659891549	Apr 25, 2013 (138)
32	ILLUMINA	ss778476833	Sep 08, 2015 (146)
33	ILLUMINA	ss782941039	Sep 08, 2015 (146)
34	ILLUMINA	ss783903614	Sep 08, 2015 (146)
35	ILLUMINA	ss832196665	Sep 08, 2015 (146)
36	ILLUMINA	ss833932662	Sep 08, 2015 (146)
37	EVA-GONL	ss991334745	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1079793456	Aug 21, 2014 (142)
39	1000GENOMES	ss1351712752	Aug 21, 2014 (142)
40	DDI	ss1427475694	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1577364419	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1632118182	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1675112215	Apr 01, 2015 (144)
44	EVA_DECODE	ss1695339608	Apr 01, 2015 (144)
45	ILLUMINA	ss1752143120	Sep 08, 2015 (146)
46	HAMMER_LAB	ss1807995945	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1934705350	Feb 12, 2016 (147)
48	ILLUMINA	ss1946381861	Feb 12, 2016 (147)
49	ILLUMINA	ss1959568741	Feb 12, 2016 (147)
50	GENOMED	ss1968003263	Jul 19, 2016 (147)
51	JJLAB	ss2028134424	Sep 14, 2016 (149)
52	USC_VALOUEV	ss2156512102	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2203449688	Dec 20, 2016 (150)
54	SYSTEMSBIOZJU	ss2628556315	Nov 08, 2017 (151)
55	ILLUMINA	ss2633174177	Nov 08, 2017 (151)
56	GRF	ss2700944953	Nov 08, 2017 (151)
57	ILLUMINA	ss2710805397	Nov 08, 2017 (151)
58	GNOMAD	ss2929716812	Nov 08, 2017 (151)
59	SWEGEN	ss3012492290	Nov 08, 2017 (151)
60	ILLUMINA	ss3021585803	Nov 08, 2017 (151)
61	BIOINF_KMB_FNS_UNIBA	ss3027892242	Nov 08, 2017 (151)
62	CSHL	ss3350888798	Nov 08, 2017 (151)
63	ILLUMINA	ss3625663234	Oct 12, 2018 (152)
64	ILLUMINA	ss3627261323	Oct 12, 2018 (152)
65	ILLUMINA	ss3631170941	Oct 12, 2018 (152)
66	ILLUMINA	ss3633082387	Oct 12, 2018 (152)
67	ILLUMINA	ss3633786108	Oct 12, 2018 (152)
68	ILLUMINA	ss3634585561	Oct 12, 2018 (152)
69	ILLUMINA	ss3635475457	Oct 12, 2018 (152)
70	ILLUMINA	ss3636274835	Oct 12, 2018 (152)
71	ILLUMINA	ss3637226629	Oct 12, 2018 (152)
72	ILLUMINA	ss3640292888	Oct 12, 2018 (152)
73	ILLUMINA	ss3644634994	Oct 12, 2018 (152)
74	URBANLAB	ss3650242184	Oct 12, 2018 (152)
75	ILLUMINA	ss3651980780	Oct 12, 2018 (152)
76	EGCUT_WGS	ss3679748136	Jul 13, 2019 (153)
77	EVA_DECODE	ss3697033181	Jul 13, 2019 (153)
78	ILLUMINA	ss3725463204	Jul 13, 2019 (153)
79	ACPOP	ss3740539942	Jul 13, 2019 (153)
80	ILLUMINA	ss3744124800	Jul 13, 2019 (153)
81	ILLUMINA	ss3744886179	Jul 13, 2019 (153)
82	EVA	ss3752541347	Jul 13, 2019 (153)
83	PAGE_CC	ss3771801154	Jul 13, 2019 (153)
84	ILLUMINA	ss3772384939	Jul 13, 2019 (153)
85	PACBIO	ss3787715700	Jul 13, 2019 (153)
86	PACBIO	ss3792745952	Jul 13, 2019 (153)
87	PACBIO	ss3797630338	Jul 13, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3817868187	Jul 13, 2019 (153)
89	EVA	ss3834011513	Apr 27, 2020 (154)
90	EVA	ss3840596533	Apr 27, 2020 (154)
91	EVA	ss3846086225	Apr 27, 2020 (154)
92	SGDP_PRJ	ss3881877356	Apr 27, 2020 (154)
93	KRGDB	ss3930937386	Apr 27, 2020 (154)
94	KOGIC	ss3975291539	Apr 27, 2020 (154)
95	EVA	ss3984694360	Apr 26, 2021 (155)
96	EVA	ss4017679724	Apr 26, 2021 (155)
97	TOPMED	ss4976772410	Apr 26, 2021 (155)
98	TOMMO_GENOMICS	ss5214039286	Apr 26, 2021 (155)
99	1000G_HIGH_COVERAGE	ss5296847030	Oct 16, 2022 (156)
100	EVA	ss5315750698	Oct 16, 2022 (156)
101	EVA	ss5416389416	Oct 16, 2022 (156)
102	HUGCELL_USP	ss5490829977	Oct 16, 2022 (156)
103	EVA	ss5511304223	Oct 16, 2022 (156)
104	1000G_HIGH_COVERAGE	ss5597434997	Oct 16, 2022 (156)
105	SANFORD_IMAGENETICS	ss5656572702	Oct 16, 2022 (156)
106	TOMMO_GENOMICS	ss5767079806	Oct 16, 2022 (156)
107	EVA	ss5799925025	Oct 16, 2022 (156)
108	YY_MCH	ss5814905804	Oct 16, 2022 (156)
109	EVA	ss5841356479	Oct 16, 2022 (156)
110	EVA	ss5847727223	Oct 16, 2022 (156)
111	EVA	ss5851109905	Oct 16, 2022 (156)
112	EVA	ss5902057028	Oct 16, 2022 (156)
113	EVA	ss5948023229	Oct 16, 2022 (156)
114	EVA	ss5980838782	Oct 16, 2022 (156)
115	1000Genomes	NC_000014.8 - 77651351	Oct 12, 2018 (152)
116	1000Genomes_30x	NC_000014.9 - 77185008	Oct 16, 2022 (156)
117	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 77651351	Oct 12, 2018 (152)
118	Genetic variation in the Estonian population	NC_000014.8 - 77651351	Oct 12, 2018 (152)
119	The Danish reference pan genome	NC_000014.8 - 77651351	Apr 27, 2020 (154)
120	gnomAD - Genomes	NC_000014.9 - 77185008	Apr 26, 2021 (155)
121	Genome of the Netherlands Release 5	NC_000014.8 - 77651351	Apr 27, 2020 (154)
122	HapMap	NC_000014.9 - 77185008	Apr 27, 2020 (154)
123	KOREAN population from KRGDB	NC_000014.8 - 77651351	Apr 27, 2020 (154)
124	Korean Genome Project	NC_000014.9 - 77185008	Apr 27, 2020 (154)
125	Northern Sweden	NC_000014.8 - 77651351	Jul 13, 2019 (153)
126	The PAGE Study	NC_000014.9 - 77185008	Jul 13, 2019 (153)
127	CNV burdens in cranial meningiomas	NC_000014.8 - 77651351	Apr 26, 2021 (155)
128	Qatari	NC_000014.8 - 77651351	Apr 27, 2020 (154)
129	SGDP_PRJ	NC_000014.8 - 77651351	Apr 27, 2020 (154)
130	Siberian	NC_000014.8 - 77651351	Apr 27, 2020 (154)
131	8.3KJPN	NC_000014.8 - 77651351	Apr 26, 2021 (155)
132	14KJPN	NC_000014.9 - 77185008	Oct 16, 2022 (156)
133	TopMed	NC_000014.9 - 77185008	Apr 26, 2021 (155)
134	UK 10K study - Twins	NC_000014.8 - 77651351	Oct 12, 2018 (152)
135	ALFA	NC_000014.9 - 77185008	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
ss90001175, ss108472663, ss113556933, ss169985972, ss171345219, ss200287478, ss206919442, ss255118852, ss282070965, ss286872747, ss291632950, ss480383731, ss1695339608	NC_000014.7:76721103:G:A	NC_000014.9:77185007:G:A	(self)
64720541, 35966171, 25486384, 3676761, 16060385, 38114780, 13824807, 243878, 16747280, 33894336, 9028456, 72008593, 35966171, ss226660926, ss236610233, ss243030590, ss480396389, ss481173066, ss484989448, ss537023721, ss564200005, ss659891549, ss778476833, ss782941039, ss783903614, ss832196665, ss833932662, ss991334745, ss1079793456, ss1351712752, ss1427475694, ss1577364419, ss1632118182, ss1675112215, ss1752143120, ss1807995945, ss1934705350, ss1946381861, ss1959568741, ss1968003263, ss2028134424, ss2156512102, ss2628556315, ss2633174177, ss2700944953, ss2710805397, ss2929716812, ss3012492290, ss3021585803, ss3350888798, ss3625663234, ss3627261323, ss3631170941, ss3633082387, ss3633786108, ss3634585561, ss3635475457, ss3636274835, ss3637226629, ss3640292888, ss3644634994, ss3651980780, ss3679748136, ss3740539942, ss3744124800, ss3744886179, ss3752541347, ss3772384939, ss3787715700, ss3792745952, ss3797630338, ss3834011513, ss3840596533, ss3881877356, ss3930937386, ss3984694360, ss4017679724, ss5214039286, ss5315750698, ss5416389416, ss5511304223, ss5656572702, ss5799925025, ss5841356479, ss5847727223, ss5948023229, ss5980838782	NC_000014.8:77651350:G:A	NC_000014.9:77185007:G:A	(self)
84960932, 456322299, 1179759, 31669540, 1022623, 100916910, 192318069, 8264858171, ss2203449688, ss3027892242, ss3650242184, ss3697033181, ss3725463204, ss3771801154, ss3817868187, ss3846086225, ss3975291539, ss4976772410, ss5296847030, ss5490829977, ss5597434997, ss5767079806, ss5814905804, ss5851109905, ss5902057028	NC_000014.9:77185007:G:A	NC_000014.9:77185007:G:A	(self)
ss2924132, ss6776662, ss43583800, ss69162816, ss96929310, ss106399707, ss134060154, ss136995606, ss156005216, ss160489409	NT_026437.12:58651350:G:A	NC_000014.9:77185007:G:A	(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 rs2020996

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2020996