Name: rs2978663
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.

rs2978663

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:30708428 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.381771 (117609/308062, ALFA)
C=0.486573 (128791/264690, TOPMED)
C=0.473264 (66292/140074, GnomAD) (+ 22 more)
T=0.45549 (35846/78698, PAGE_STUDY)
T=0.45817 (12947/28258, 14KJPN)
T=0.45889 (7691/16760, 8.3KJPN)
C=0.4834 (3096/6404, 1000G_30x)
C=0.4804 (2406/5008, 1000G)
C=0.3569 (1599/4480, Estonian)
C=0.3749 (1445/3854, ALSPAC)
C=0.3749 (1390/3708, TWINSUK)
T=0.4836 (1417/2930, KOREAN)
C=0.4683 (976/2084, HGDP_Stanford)
T=0.4466 (844/1890, HapMap)
C=0.4989 (914/1832, Korea1K)
C=0.346 (345/998, GoNL)
T=0.469 (368/784, PRJEB37584)
C=0.300 (180/600, NorthernSweden)
C=0.294 (121/412, SGDP_PRJ)
T=0.444 (96/216, Qatari)
T=0.435 (94/216, Vietnamese)
C=0.50 (26/52, Ancient Sardinia)
T=0.50 (26/52, Ancient Sardinia)
C=0.23 (10/44, Siberian)
C=0.23 (9/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: GSR : Intron Variant
Publications: 3 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	308154	C=0.381767	T=0.618233
European	Sub	273616	C=0.371477	T=0.628523
African	Sub	7958	C=0.7027	T=0.2973
African Others	Sub	318	C=0.777	T=0.223
African American	Sub	7640	C=0.6996	T=0.3004
Asian	Sub	3922	C=0.5357	T=0.4643
East Asian	Sub	3176	C=0.5321	T=0.4679
Other Asian	Sub	746	C=0.551	T=0.449
Latin American 1	Sub	1134	C=0.4533	T=0.5467
Latin American 2	Sub	7224	C=0.3112	T=0.6888
South Asian	Sub	5224	C=0.3411	T=0.6589
Other	Sub	9076	C=0.4147	T=0.5853

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	308062	C=0.381771	T=0.618229
Allele Frequency Aggregator	European	Sub	273542	C=0.371479	T=0.628521
Allele Frequency Aggregator	Other	Sub	9058	C=0.4148	T=0.5852
Allele Frequency Aggregator	African	Sub	7958	C=0.7027	T=0.2973
Allele Frequency Aggregator	Latin American 2	Sub	7224	C=0.3112	T=0.6888
Allele Frequency Aggregator	South Asian	Sub	5224	C=0.3411	T=0.6589
Allele Frequency Aggregator	Asian	Sub	3922	C=0.5357	T=0.4643
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.4533	T=0.5467
TopMed	Global	Study-wide	264690	C=0.486573	T=0.513427
gnomAD - Genomes	Global	Study-wide	140074	C=0.473264	T=0.526736
gnomAD - Genomes	European	Sub	75874	C=0.35539	T=0.64461
gnomAD - Genomes	African	Sub	41978	C=0.71945	T=0.28055
gnomAD - Genomes	American	Sub	13638	C=0.37505	T=0.62495
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4205	T=0.5795
gnomAD - Genomes	East Asian	Sub	3122	C=0.5147	T=0.4853
gnomAD - Genomes	Other	Sub	2140	C=0.4706	T=0.5294
The PAGE Study	Global	Study-wide	78698	C=0.54451	T=0.45549
The PAGE Study	AfricanAmerican	Sub	32514	C=0.70982	T=0.29018
The PAGE Study	Mexican	Sub	10810	C=0.31129	T=0.68871
The PAGE Study	Asian	Sub	8318	C=0.5451	T=0.4549
The PAGE Study	PuertoRican	Sub	7916	C=0.4693	T=0.5307
The PAGE Study	NativeHawaiian	Sub	4534	C=0.4356	T=0.5644
The PAGE Study	Cuban	Sub	4230	C=0.4291	T=0.5709
The PAGE Study	Dominican	Sub	3828	C=0.5408	T=0.4592
The PAGE Study	CentralAmerican	Sub	2450	C=0.3604	T=0.6396
The PAGE Study	SouthAmerican	Sub	1982	C=0.3305	T=0.6695
The PAGE Study	NativeAmerican	Sub	1260	C=0.3929	T=0.6071
The PAGE Study	SouthAsian	Sub	856	C=0.311	T=0.689
14KJPN	JAPANESE	Study-wide	28258	C=0.54183	T=0.45817
8.3KJPN	JAPANESE	Study-wide	16760	C=0.54111	T=0.45889
1000Genomes_30x	Global	Study-wide	6404	C=0.4834	T=0.5166
1000Genomes_30x	African	Sub	1786	C=0.7637	T=0.2363
1000Genomes_30x	Europe	Sub	1266	C=0.3570	T=0.6430
1000Genomes_30x	South Asian	Sub	1202	C=0.2829	T=0.7171
1000Genomes_30x	East Asian	Sub	1170	C=0.5111	T=0.4889
1000Genomes_30x	American	Sub	980	C=0.349	T=0.651
1000Genomes	Global	Study-wide	5008	C=0.4804	T=0.5196
1000Genomes	African	Sub	1322	C=0.7625	T=0.2375
1000Genomes	East Asian	Sub	1008	C=0.5159	T=0.4841
1000Genomes	Europe	Sub	1006	C=0.3588	T=0.6412
1000Genomes	South Asian	Sub	978	C=0.279	T=0.721
1000Genomes	American	Sub	694	C=0.352	T=0.648
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3569	T=0.6431
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3749	T=0.6251
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3749	T=0.6251
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5164	T=0.4836
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4683	T=0.5317
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.502	T=0.498
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.449	T=0.551
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.463	T=0.537
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.425	T=0.575
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.798	T=0.202
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.176	T=0.824
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.35	T=0.65
HapMap	Global	Study-wide	1890	C=0.5534	T=0.4466
HapMap	American	Sub	770	C=0.405	T=0.595
HapMap	African	Sub	690	C=0.764	T=0.236
HapMap	Asian	Sub	254	C=0.551	T=0.449
HapMap	Europe	Sub	176	C=0.381	T=0.619
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4989	T=0.5011
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.346	T=0.654
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.531	T=0.469
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.531	T=0.469
Northern Sweden	ACPOP	Study-wide	600	C=0.300	T=0.700
SGDP_PRJ	Global	Study-wide	412	C=0.294	T=0.706
Qatari	Global	Study-wide	216	C=0.556	T=0.444
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.565	T=0.435
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	52	C=0.50	T=0.50
Siberian	Global	Study-wide	44	C=0.23	T=0.77
The Danish reference pan genome	Danish	Study-wide	40	C=0.23	T=0.78

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 8	NC_000008.11:g.30708428C>T
GRCh37.p13 chr 8	NC_000008.10:g.30565945C>T
GSR RefSeqGene (LRG_1167)	NG_027719.1:g.24542G>A

Gene: GSR, glutathione-disulfide reductase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GSR transcript variant 1	NM_000637.5:c.423-287G>A	N/A	Intron Variant
GSR transcript variant 2	NM_001195102.3:c.423-287G… NM_001195102.3:c.423-287G>A	N/A	Intron Variant
GSR transcript variant 3	NM_001195103.3:c.423-287G… NM_001195103.3:c.423-287G>A	N/A	Intron Variant
GSR transcript variant 4	NM_001195104.3:c.423-287G… NM_001195104.3:c.423-287G>A	N/A	Intron Variant
GSR transcript variant X1	XM_047421727.1:c.87-287G>A	N/A	Intron Variant
GSR transcript variant X2	XM_047421728.1:c.-370=	N/A	5 Prime UTR 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: T (allele ID: 1248033 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001671069.2	not provided	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=	T
GRCh38.p14 chr 8	NC_000008.11:g.30708428=	NC_000008.11:g.30708428C>T
GRCh37.p13 chr 8	NC_000008.10:g.30565945=	NC_000008.10:g.30565945C>T
GSR RefSeqGene (LRG_1167)	NG_027719.1:g.24542=	NG_027719.1:g.24542G>A
GSR transcript variant X2	XM_047421728.1:c.-370=	XM_047421728.1:c.-370G>A
GSR transcript variant 1	NM_000637.3:c.423-287=	NM_000637.3:c.423-287G>A
GSR transcript variant 1	NM_000637.5:c.423-287=	NM_000637.5:c.423-287G>A
GSR transcript variant 2	NM_001195102.1:c.423-287=	NM_001195102.1:c.423-287G>A
GSR transcript variant 2	NM_001195102.3:c.423-287=	NM_001195102.3:c.423-287G>A
GSR transcript variant 3	NM_001195103.1:c.423-287=	NM_001195103.1:c.423-287G>A
GSR transcript variant 3	NM_001195103.3:c.423-287=	NM_001195103.3:c.423-287G>A
GSR transcript variant 4	NM_001195104.1:c.423-287=	NM_001195104.1:c.423-287G>A
GSR transcript variant 4	NM_001195104.3:c.423-287=	NM_001195104.3:c.423-287G>A
GSR transcript variant X1	XM_047421727.1:c.87-287=	XM_047421727.1:c.87-287G>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#.

147 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4192768	Nov 05, 2001 (101)
2	EGP_SNPS	ss12584755	Aug 26, 2003 (117)
3	SSAHASNP	ss22663898	Apr 05, 2004 (121)
4	ABI	ss44893585	Mar 14, 2006 (126)
5	ILLUMINA	ss66647773	Nov 30, 2006 (127)
6	EGP_SNPS	ss66860700	Nov 30, 2006 (127)
7	ILLUMINA	ss67286562	Nov 30, 2006 (127)
8	ILLUMINA	ss67689487	Nov 30, 2006 (127)
9	PERLEGEN	ss69046059	May 17, 2007 (127)
10	ILLUMINA	ss70765116	May 23, 2008 (130)
11	ILLUMINA	ss71339587	May 17, 2007 (127)
12	ILLUMINA	ss75521980	Dec 07, 2007 (129)
13	ILLUMINA	ss79155953	Dec 14, 2007 (130)
14	HGSV	ss82710494	Dec 14, 2007 (130)
15	KRIBB_YJKIM	ss84135678	Dec 14, 2007 (130)
16	BCMHGSC_JDW	ss93864616	Mar 25, 2008 (129)
17	HUMANGENOME_JCVI	ss97863838	Feb 03, 2009 (130)
18	BGI	ss105610013	Feb 03, 2009 (130)
19	1000GENOMES	ss112956775	Jan 25, 2009 (130)
20	ILLUMINA	ss122156006	Dec 01, 2009 (131)
21	ENSEMBL	ss134433022	Dec 01, 2009 (131)
22	ENSEMBL	ss143373067	Dec 01, 2009 (131)
23	ILLUMINA	ss154249860	Dec 01, 2009 (131)
24	GMI	ss156216318	Dec 01, 2009 (131)
25	ILLUMINA	ss159426783	Dec 01, 2009 (131)
26	ILLUMINA	ss160604189	Dec 01, 2009 (131)
27	ILLUMINA	ss171507878	Jul 04, 2010 (132)
28	ILLUMINA	ss173545967	Jul 04, 2010 (132)
29	BUSHMAN	ss198989206	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss208709987	Jul 04, 2010 (132)
31	1000GENOMES	ss210503098	Jul 14, 2010 (132)
32	1000GENOMES	ss223632206	Jul 14, 2010 (132)
33	1000GENOMES	ss234386264	Jul 15, 2010 (132)
34	1000GENOMES	ss241254357	Jul 15, 2010 (132)
35	ILLUMINA	ss244293148	Jul 04, 2010 (132)
36	BL	ss254234252	May 09, 2011 (134)
37	GMI	ss279756529	May 04, 2012 (137)
38	GMI	ss285822571	Apr 25, 2013 (138)
39	PJP	ss294250267	May 09, 2011 (134)
40	ILLUMINA	ss410927662	Sep 17, 2011 (135)
41	ILLUMINA	ss480733472	May 04, 2012 (137)
42	ILLUMINA	ss480749251	May 04, 2012 (137)
43	ILLUMINA	ss481631145	Sep 08, 2015 (146)
44	ILLUMINA	ss485161429	May 04, 2012 (137)
45	ILLUMINA	ss537154720	Sep 08, 2015 (146)
46	TISHKOFF	ss560657516	Apr 25, 2013 (138)
47	SSMP	ss655091155	Apr 25, 2013 (138)
48	ILLUMINA	ss778513796	Sep 08, 2015 (146)
49	ILLUMINA	ss783026973	Aug 21, 2014 (142)
50	ILLUMINA	ss783986780	Sep 08, 2015 (146)
51	ILLUMINA	ss825486471	Apr 01, 2015 (144)
52	ILLUMINA	ss832284559	Apr 01, 2015 (144)
53	ILLUMINA	ss832938406	Aug 21, 2014 (142)
54	ILLUMINA	ss833529236	Aug 21, 2014 (142)
55	ILLUMINA	ss833970095	Sep 08, 2015 (146)
56	EVA-GONL	ss985359558	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1075405670	Aug 21, 2014 (142)
58	1000GENOMES	ss1329245800	Aug 21, 2014 (142)
59	DDI	ss1431468810	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1582628494	Apr 01, 2015 (144)
61	EVA_DECODE	ss1594954049	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1620314146	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1663308179	Apr 01, 2015 (144)
64	EVA_SVP	ss1713027931	Apr 01, 2015 (144)
65	ILLUMINA	ss1752728530	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1805472370	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1928649585	Feb 12, 2016 (147)
68	ILLUMINA	ss1946233986	Feb 12, 2016 (147)
69	ILLUMINA	ss1959101642	Feb 12, 2016 (147)
70	GENOMED	ss1970950438	Jul 19, 2016 (147)
71	JJLAB	ss2025028002	Sep 14, 2016 (149)
72	ILLUMINA	ss2095209677	Dec 20, 2016 (150)
73	USC_VALOUEV	ss2153250110	Dec 20, 2016 (150)
74	HUMAN_LONGEVITY	ss2301977834	Dec 20, 2016 (150)
75	SYSTEMSBIOZJU	ss2626997847	Nov 08, 2017 (151)
76	ILLUMINA	ss2634732513	Nov 08, 2017 (151)
77	ILLUMINA	ss2634732514	Nov 08, 2017 (151)
78	GRF	ss2709013621	Nov 08, 2017 (151)
79	ILLUMINA	ss2711135269	Nov 08, 2017 (151)
80	GNOMAD	ss2865016896	Nov 08, 2017 (151)
81	AFFY	ss2985435774	Nov 08, 2017 (151)
82	AFFY	ss2986079817	Nov 08, 2017 (151)
83	SWEGEN	ss3002936385	Nov 08, 2017 (151)
84	ILLUMINA	ss3022834676	Nov 08, 2017 (151)
85	BIOINF_KMB_FNS_UNIBA	ss3026304788	Nov 08, 2017 (151)
86	CSHL	ss3348119438	Nov 08, 2017 (151)
87	ILLUMINA	ss3625949217	Oct 12, 2018 (152)
88	ILLUMINA	ss3630033622	Oct 12, 2018 (152)
89	ILLUMINA	ss3632632403	Oct 12, 2018 (152)
90	ILLUMINA	ss3633497047	Oct 12, 2018 (152)
91	ILLUMINA	ss3634223664	Oct 12, 2018 (152)
92	ILLUMINA	ss3635166724	Oct 12, 2018 (152)
93	ILLUMINA	ss3635902544	Oct 12, 2018 (152)
94	ILLUMINA	ss3636903951	Oct 12, 2018 (152)
95	ILLUMINA	ss3637655699	Oct 12, 2018 (152)
96	ILLUMINA	ss3638753419	Oct 12, 2018 (152)
97	ILLUMINA	ss3639379438	Oct 12, 2018 (152)
98	ILLUMINA	ss3639718684	Oct 12, 2018 (152)
99	ILLUMINA	ss3640874014	Oct 12, 2018 (152)
100	ILLUMINA	ss3643684809	Oct 12, 2018 (152)
101	ILLUMINA	ss3644967176	Oct 12, 2018 (152)
102	URBANLAB	ss3648886576	Oct 12, 2018 (152)
103	ILLUMINA	ss3653376055	Oct 12, 2018 (152)
104	ILLUMINA	ss3654197780	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3670622244	Jul 13, 2019 (153)
106	EVA_DECODE	ss3721723670	Jul 13, 2019 (153)
107	ILLUMINA	ss3726528040	Jul 13, 2019 (153)
108	ACPOP	ss3735540412	Jul 13, 2019 (153)
109	ILLUMINA	ss3744304213	Jul 13, 2019 (153)
110	ILLUMINA	ss3745466539	Jul 13, 2019 (153)
111	EVA	ss3767822561	Jul 13, 2019 (153)
112	PAGE_CC	ss3771434872	Jul 13, 2019 (153)
113	ILLUMINA	ss3772959058	Jul 13, 2019 (153)
114	PACBIO	ss3786109283	Jul 13, 2019 (153)
115	PACBIO	ss3791372403	Jul 13, 2019 (153)
116	PACBIO	ss3796253664	Jul 13, 2019 (153)
117	KHV_HUMAN_GENOMES	ss3810983340	Jul 13, 2019 (153)
118	EVA	ss3831097066	Apr 26, 2020 (154)
119	EVA	ss3839058509	Apr 26, 2020 (154)
120	EVA	ss3844516919	Apr 26, 2020 (154)
121	HGDP	ss3847910033	Apr 26, 2020 (154)
122	SGDP_PRJ	ss3869610588	Apr 26, 2020 (154)
123	KRGDB	ss3917051574	Apr 26, 2020 (154)
124	KOGIC	ss3963571640	Apr 26, 2020 (154)
125	EVA	ss3984603726	Apr 26, 2021 (155)
126	EVA	ss3985352979	Apr 26, 2021 (155)
127	EVA	ss4017384435	Apr 26, 2021 (155)
128	TOPMED	ss4780868883	Apr 26, 2021 (155)
129	TOMMO_GENOMICS	ss5188022741	Apr 26, 2021 (155)
130	1000G_HIGH_COVERAGE	ss5276619561	Oct 14, 2022 (156)
131	EVA	ss5315324245	Oct 14, 2022 (156)
132	EVA	ss5380176017	Oct 14, 2022 (156)
133	HUGCELL_USP	ss5473243609	Oct 14, 2022 (156)
134	EVA	ss5509303243	Oct 14, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5566683767	Oct 14, 2022 (156)
136	SANFORD_IMAGENETICS	ss5624690620	Oct 14, 2022 (156)
137	SANFORD_IMAGENETICS	ss5645088997	Oct 14, 2022 (156)
138	TOMMO_GENOMICS	ss5729747171	Oct 14, 2022 (156)
139	EVA	ss5799753111	Oct 14, 2022 (156)
140	YY_MCH	ss5809587631	Oct 14, 2022 (156)
141	EVA	ss5830336842	Oct 14, 2022 (156)
142	EVA	ss5847337126	Oct 14, 2022 (156)
143	EVA	ss5856322435	Oct 14, 2022 (156)
144	EVA	ss5888359101	Oct 14, 2022 (156)
145	EVA	ss5974278544	Oct 14, 2022 (156)
146	EVA	ss5979859491	Oct 14, 2022 (156)
147	EVA	ss5980498197	Oct 14, 2022 (156)
148	1000Genomes	NC_000008.10 - 30565945	Oct 12, 2018 (152)
149	1000Genomes_30x	NC_000008.11 - 30708428	Oct 14, 2022 (156)
150	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 30565945	Oct 12, 2018 (152)
151	Genetic variation in the Estonian population	NC_000008.10 - 30565945	Oct 12, 2018 (152)
152	The Danish reference pan genome	NC_000008.10 - 30565945	Apr 26, 2020 (154)
153	gnomAD - Genomes	NC_000008.11 - 30708428	Apr 26, 2021 (155)
154	Genome of the Netherlands Release 5	NC_000008.10 - 30565945	Apr 26, 2020 (154)
155	HGDP-CEPH-db Supplement 1	NC_000008.9 - 30685487	Apr 26, 2020 (154)
156	HapMap	NC_000008.11 - 30708428	Apr 26, 2020 (154)
157	KOREAN population from KRGDB	NC_000008.10 - 30565945	Apr 26, 2020 (154)
158	Korean Genome Project	NC_000008.11 - 30708428	Apr 26, 2020 (154)
159	Northern Sweden	NC_000008.10 - 30565945	Jul 13, 2019 (153)
160	The PAGE Study	NC_000008.11 - 30708428	Jul 13, 2019 (153)
161	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 30565945	Apr 26, 2021 (155)
162	CNV burdens in cranial meningiomas	NC_000008.10 - 30565945	Apr 26, 2021 (155)
163	Qatari	NC_000008.10 - 30565945	Apr 26, 2020 (154)
164	SGDP_PRJ	NC_000008.10 - 30565945	Apr 26, 2020 (154)
165	Siberian	NC_000008.10 - 30565945	Apr 26, 2020 (154)
166	8.3KJPN	NC_000008.10 - 30565945	Apr 26, 2021 (155)
167	14KJPN	NC_000008.11 - 30708428	Oct 14, 2022 (156)
168	TopMed	NC_000008.11 - 30708428	Apr 26, 2021 (155)
169	UK 10K study - Twins	NC_000008.10 - 30565945	Oct 12, 2018 (152)
170	A Vietnamese Genetic Variation Database	NC_000008.10 - 30565945	Jul 13, 2019 (153)
171	ALFA	NC_000008.11 - 30708428	Apr 26, 2021 (155)
172	ClinVar	RCV001671069.2	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)
rs56830980	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
587925, ss82710494, ss93864616, ss112956775, ss198989206, ss208709987, ss210503098, ss254234252, ss279756529, ss285822571, ss294250267, ss410927662, ss480733472, ss825486471, ss1594954049, ss1713027931, ss3639379438, ss3639718684, ss3643684809, ss3847910033	NC_000008.9:30685486:C:T	NC_000008.11:30708427:C:T	(self)
41351572, 22994566, 16360492, 8793432, 10271707, 24228968, 8825277, 578906, 153164, 10691515, 21627568, 5766464, 45992048, 22994566, 5126567, ss223632206, ss234386264, ss241254357, ss480749251, ss481631145, ss485161429, ss537154720, ss560657516, ss655091155, ss778513796, ss783026973, ss783986780, ss832284559, ss832938406, ss833529236, ss833970095, ss985359558, ss1075405670, ss1329245800, ss1431468810, ss1582628494, ss1620314146, ss1663308179, ss1752728530, ss1805472370, ss1928649585, ss1946233986, ss1959101642, ss1970950438, ss2025028002, ss2095209677, ss2153250110, ss2626997847, ss2634732513, ss2634732514, ss2709013621, ss2711135269, ss2865016896, ss2985435774, ss2986079817, ss3002936385, ss3022834676, ss3348119438, ss3625949217, ss3630033622, ss3632632403, ss3633497047, ss3634223664, ss3635166724, ss3635902544, ss3636903951, ss3637655699, ss3638753419, ss3640874014, ss3644967176, ss3653376055, ss3654197780, ss3670622244, ss3735540412, ss3744304213, ss3745466539, ss3767822561, ss3772959058, ss3786109283, ss3791372403, ss3796253664, ss3831097066, ss3839058509, ss3869610588, ss3917051574, ss3984603726, ss3985352979, ss4017384435, ss5188022741, ss5315324245, ss5380176017, ss5509303243, ss5624690620, ss5645088997, ss5799753111, ss5830336842, ss5847337126, ss5974278544, ss5979859491, ss5980498197	NC_000008.10:30565944:C:T	NC_000008.11:30708427:C:T	(self)
RCV001671069.2, 54209702, 291548800, 3597892, 19949641, 656341, 63584275, 618246443, 3848350191, ss2301977834, ss3026304788, ss3648886576, ss3721723670, ss3726528040, ss3771434872, ss3810983340, ss3844516919, ss3963571640, ss4780868883, ss5276619561, ss5473243609, ss5566683767, ss5729747171, ss5809587631, ss5856322435, ss5888359101	NC_000008.11:30708427:C:T	NC_000008.11:30708427:C:T	(self)
ss22663898	NT_007995.13:886718:C:T	NC_000008.11:30708427:C:T	(self)
ss4192768, ss12584755, ss44893585, ss66647773, ss66860700, ss67286562, ss67689487, ss69046059, ss70765116, ss71339587, ss75521980, ss79155953, ss84135678, ss97863838, ss105610013, ss122156006, ss134433022, ss143373067, ss154249860, ss156216318, ss159426783, ss160604189, ss171507878, ss173545967, ss244293148	NT_167187.1:18424090:C:T	NC_000008.11:30708427:C:T	(self)

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

3 citations for rs2978663

PMID	Title	Author	Year	Journal
22824134	Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients.	Wang D et al.	2012	BMC medical genomics
27589269	Genomic and Metabolomic Profile Associated to Clustering of Cardio-Metabolic Risk Factors.	Marrachelli VG et al.	2016	PloS one
35361806	Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases.	Vyas B et al.	2022	Scientific reports

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

rs2978663