Name: rs7775108
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.

rs7775108

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32452461 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.424274 (112301/264690, TOPMED)
T=0.439543 (61413/139720, GnomAD)
T=0.42351 (16543/39062, ALFA) (+ 15 more)
T=0.47321 (13372/28258, 14KJPN)
T=0.47631 (7983/16760, 8.3KJPN)
T=0.4272 (2736/6404, 1000G_30x)
T=0.4295 (2151/5008, 1000G)
T=0.4871 (2182/4480, Estonian)
T=0.3869 (1491/3854, ALSPAC)
T=0.4043 (1499/3708, TWINSUK)
T=0.4024 (1179/2930, KOREAN)
T=0.446 (445/998, GoNL)
T=0.492 (295/600, NorthernSweden)
T=0.275 (123/448, SGDP_PRJ)
T=0.347 (75/216, Qatari)
T=0.421 (91/216, Vietnamese)
T=0.22 (11/50, Siberian)
C=0.42 (17/40, GENOME_DK)

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	39062	T=0.42351	C=0.57649
European	Sub	29752	T=0.41772	C=0.58228
African	Sub	3760	T=0.5202	C=0.4798
African Others	Sub	132	T=0.576	C=0.424
African American	Sub	3628	T=0.5182	C=0.4818
Asian	Sub	430	T=0.456	C=0.544
East Asian	Sub	368	T=0.457	C=0.543
Other Asian	Sub	62	T=0.45	C=0.55
Latin American 1	Sub	204	T=0.392	C=0.608
Latin American 2	Sub	876	T=0.397	C=0.603
South Asian	Sub	148	T=0.351	C=0.649
Other	Sub	3892	T=0.3810	C=0.6190

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	T=0.424274	C=0.575726
gnomAD - Genomes	Global	Study-wide	139720	T=0.439543	C=0.560457
gnomAD - Genomes	European	Sub	75658	T=0.42171	C=0.57829
gnomAD - Genomes	African	Sub	41858	T=0.51550	C=0.48450
gnomAD - Genomes	American	Sub	13618	T=0.35615	C=0.64385
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.2691	C=0.7309
gnomAD - Genomes	East Asian	Sub	3124	T=0.4206	C=0.5794
gnomAD - Genomes	Other	Sub	2144	T=0.4067	C=0.5933
Allele Frequency Aggregator	Total	Global	39062	T=0.42351	C=0.57649
Allele Frequency Aggregator	European	Sub	29752	T=0.41772	C=0.58228
Allele Frequency Aggregator	Other	Sub	3892	T=0.3810	C=0.6190
Allele Frequency Aggregator	African	Sub	3760	T=0.5202	C=0.4798
Allele Frequency Aggregator	Latin American 2	Sub	876	T=0.397	C=0.603
Allele Frequency Aggregator	Asian	Sub	430	T=0.456	C=0.544
Allele Frequency Aggregator	Latin American 1	Sub	204	T=0.392	C=0.608
Allele Frequency Aggregator	South Asian	Sub	148	T=0.351	C=0.649
14KJPN	JAPANESE	Study-wide	28258	T=0.47321	C=0.52679
8.3KJPN	JAPANESE	Study-wide	16760	T=0.47631	C=0.52369
1000Genomes_30x	Global	Study-wide	6404	T=0.4272	C=0.5728
1000Genomes_30x	African	Sub	1786	T=0.5118	C=0.4882
1000Genomes_30x	Europe	Sub	1266	T=0.3760	C=0.6240
1000Genomes_30x	South Asian	Sub	1202	T=0.4060	C=0.5940
1000Genomes_30x	East Asian	Sub	1170	T=0.4590	C=0.5410
1000Genomes_30x	American	Sub	980	T=0.328	C=0.672
1000Genomes	Global	Study-wide	5008	T=0.4295	C=0.5705
1000Genomes	African	Sub	1322	T=0.5212	C=0.4788
1000Genomes	East Asian	Sub	1008	T=0.4583	C=0.5417
1000Genomes	Europe	Sub	1006	T=0.3797	C=0.6203
1000Genomes	South Asian	Sub	978	T=0.399	C=0.601
1000Genomes	American	Sub	694	T=0.329	C=0.671
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4871	C=0.5129
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3869	C=0.6131
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4043	C=0.5957
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4024	C=0.5976
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.446	C=0.554
Northern Sweden	ACPOP	Study-wide	600	T=0.492	C=0.508
SGDP_PRJ	Global	Study-wide	448	T=0.275	C=0.725
Qatari	Global	Study-wide	216	T=0.347	C=0.653
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.421	C=0.579
Siberian	Global	Study-wide	50	T=0.22	C=0.78
The Danish reference pan genome	Danish	Study-wide	40	T=0.57	C=0.42

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.32452461T>C
GRCh37.p13 chr 6	NC_000006.11:g.32420238T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3890530T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3890636T>C
DR52 genomic region	NG_002392.2:g.16741T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3675537C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3681133C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3692757C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3698342C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3767732C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3767030C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3756707C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3762327C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3793333C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3798918C>T
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.2272A>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	T=	C
GRCh38.p14 chr 6	NC_000006.12:g.32452461=	NC_000006.12:g.32452461T>C
GRCh37.p13 chr 6	NC_000006.11:g.32420238=	NC_000006.11:g.32420238T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3890530=	NT_113891.3:g.3890530T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3890636=	NT_113891.2:g.3890636T>C
DR52 genomic region	NG_002392.2:g.16741=	NG_002392.2:g.16741T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3675537C>T	NT_167248.2:g.3675537=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3681133C>T	NT_167248.1:g.3681133=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3692757C>T	NT_167245.2:g.3692757=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3698342C>T	NT_167245.1:g.3698342=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3767732C>T	NT_167249.2:g.3767732=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3767030C>T	NT_167249.1:g.3767030=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3756707C>T	NT_167246.2:g.3756707=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3762327C>T	NT_167246.1:g.3762327=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3793333C>T	NT_167247.2:g.3793333=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3798918C>T	NT_167247.1:g.3798918=
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.2272=	NT_187692.1:g.2272A>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#.

78 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11839964	Jul 11, 2003 (116)
2	SI_MHC_SNP	ss12693719	Oct 31, 2003 (119)
3	SC_SNP	ss12859911	Dec 05, 2003 (126)
4	SSAHASNP	ss22511789	Apr 05, 2004 (121)
5	HGSV	ss81866572	Dec 15, 2007 (130)
6	HUMANGENOME_JCVI	ss98380650	Feb 06, 2009 (130)
7	BGI	ss104297835	Dec 01, 2009 (131)
8	ENSEMBL	ss142572988	Dec 01, 2009 (131)
9	GMI	ss156754776	Dec 01, 2009 (131)
10	ILLUMINA	ss160913609	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss162204595	Jul 04, 2010 (135)
12	COMPLETE_GENOMICS	ss163355943	Jul 04, 2010 (135)
13	COMPLETE_GENOMICS	ss166443565	Jul 04, 2010 (135)
14	BUSHMAN	ss201633494	Jul 04, 2010 (135)
15	BCM-HGSC-SUB	ss207870692	Jul 04, 2010 (135)
16	BL	ss254193886	May 09, 2011 (137)
17	GMI	ss278730962	May 04, 2012 (137)
18	GMI	ss285375795	Apr 25, 2013 (138)
19	PJP	ss293827683	May 09, 2011 (137)
20	1000GENOMES	ss333187988	May 09, 2011 (137)
21	ILLUMINA	ss482669688	Sep 08, 2015 (146)
22	ILLUMINA	ss537512640	Sep 08, 2015 (146)
23	TISHKOFF	ss559118431	Apr 25, 2013 (138)
24	SSMP	ss653041299	Apr 25, 2013 (138)
25	ILLUMINA	ss778712941	Aug 21, 2014 (142)
26	ILLUMINA	ss834172136	Aug 21, 2014 (142)
27	EVA-GONL	ss982774527	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1073510911	Aug 21, 2014 (142)
29	1000GENOMES	ss1319580448	Aug 21, 2014 (142)
30	EVA_GENOME_DK	ss1581610422	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1615290007	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1658284040	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1804361475	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1926026626	Feb 12, 2016 (147)
35	JJLAB	ss2023647304	Sep 14, 2016 (149)
36	ILLUMINA	ss2095179435	Dec 20, 2016 (150)
37	USC_VALOUEV	ss2151814830	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2626311662	Nov 08, 2017 (151)
39	ILLUMINA	ss2634432731	Nov 08, 2017 (151)
40	GRF	ss2707409044	Nov 08, 2017 (151)
41	SWEGEN	ss2998809011	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3025610959	Nov 08, 2017 (151)
43	ILLUMINA	ss3629509376	Oct 12, 2018 (152)
44	ILLUMINA	ss3632350914	Oct 12, 2018 (152)
45	ILLUMINA	ss3636780561	Oct 12, 2018 (152)
46	URBANLAB	ss3648312129	Oct 12, 2018 (152)
47	ILLUMINA	ss3653116166	Oct 12, 2018 (152)
48	EGCUT_WGS	ss3666722356	Jul 13, 2019 (153)
49	EVA_DECODE	ss3716922970	Jul 13, 2019 (153)
50	ACPOP	ss3733369339	Jul 13, 2019 (153)
51	EVA	ss3764832014	Jul 13, 2019 (153)
52	PACBIO	ss3785428029	Jul 13, 2019 (153)
53	PACBIO	ss3790787126	Jul 13, 2019 (153)
54	PACBIO	ss3795664644	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3807986764	Jul 13, 2019 (153)
56	EVA	ss3829837369	Apr 26, 2020 (154)
57	EVA	ss3838397448	Apr 26, 2020 (154)
58	EVA	ss3843839685	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3864269156	Apr 26, 2020 (154)
60	KRGDB	ss3911046595	Apr 26, 2020 (154)
61	VINODS	ss4025230948	Apr 26, 2021 (155)
62	VINODS	ss4025249764	Apr 26, 2021 (155)
63	VINODS	ss4025289382	Apr 26, 2021 (155)
64	TOPMED	ss4698563554	Apr 26, 2021 (155)
65	TOMMO_GENOMICS	ss5176865945	Apr 26, 2021 (155)
66	1000G_HIGH_COVERAGE	ss5267957756	Oct 17, 2022 (156)
67	EVA	ss5315144111	Oct 17, 2022 (156)
68	EVA	ss5364757625	Oct 17, 2022 (156)
69	EVA	ss5508433529	Oct 17, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5553621535	Oct 17, 2022 (156)
71	SANFORD_IMAGENETICS	ss5640102717	Oct 17, 2022 (156)
72	TOMMO_GENOMICS	ss5714730257	Oct 17, 2022 (156)
73	YY_MCH	ss5807316040	Oct 17, 2022 (156)
74	EVA	ss5842037964	Oct 17, 2022 (156)
75	EVA	ss5855288145	Oct 17, 2022 (156)
76	EVA	ss5883265593	Oct 17, 2022 (156)
77	EVA	ss5968604454	Oct 17, 2022 (156)
78	EVA	ss5980357565	Oct 17, 2022 (156)
79	1000Genomes	NC_000006.11 - 32420238	Oct 12, 2018 (152)
80	1000Genomes_30x	NC_000006.12 - 32452461	Oct 17, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32420238	Oct 12, 2018 (152)
82	Genetic variation in the Estonian population	NC_000006.11 - 32420238	Oct 12, 2018 (152)
83	The Danish reference pan genome	NC_000006.11 - 32420238	Apr 26, 2020 (154)
84	gnomAD - Genomes	NC_000006.12 - 32452461	Apr 26, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000006.11 - 32420238	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000006.11 - 32420238	Apr 26, 2020 (154)
87	Northern Sweden	NC_000006.11 - 32420238	Jul 13, 2019 (153)
88	Qatari	NC_000006.11 - 32420238	Apr 26, 2020 (154)
89	SGDP_PRJ	NC_000006.11 - 32420238	Apr 26, 2020 (154)
90	Siberian	NC_000006.11 - 32420238	Apr 26, 2020 (154)
91	8.3KJPN	NC_000006.11 - 32420238	Apr 26, 2021 (155)
92	14KJPN	NC_000006.12 - 32452461	Oct 17, 2022 (156)
93	TopMed	NC_000006.12 - 32452461	Apr 26, 2021 (155)
94	UK 10K study - Twins	NC_000006.11 - 32420238	Oct 12, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000006.11 - 32420238	Jul 13, 2019 (153)
96	ALFA	NC_000006.12 - 32452461	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).

Associated ID	History Updated (Build)
rs9268776	Dec 04, 2003 (119)
rs9378206	Mar 11, 2006 (126)
rs60994037	May 26, 2008 (130)
rs113299282	Sep 17, 2011 (135)
rs113624967	Sep 17, 2011 (135)
rs138029766	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81866572	NC_000006.9:32528215:T:C	NC_000006.12:32452460:T:C	(self)
ss160913609, ss162204595, ss163355943, ss166443565, ss201633494, ss207870692, ss254193886, ss278730962, ss285375795, ss293827683	NC_000006.10:32528215:T:C	NC_000006.12:32452460:T:C	(self)
31348898, 17481071, 12460604, 7775361, 7772837, 18223989, 6654204, 8068556, 16286136, 4331184, 34835252, 17481071, 3877859, ss333187988, ss482669688, ss537512640, ss559118431, ss653041299, ss778712941, ss834172136, ss982774527, ss1073510911, ss1319580448, ss1581610422, ss1615290007, ss1658284040, ss1804361475, ss1926026626, ss2023647304, ss2095179435, ss2151814830, ss2626311662, ss2634432731, ss2707409044, ss2998809011, ss3629509376, ss3632350914, ss3636780561, ss3653116166, ss3666722356, ss3733369339, ss3764832014, ss3785428029, ss3790787126, ss3795664644, ss3829837369, ss3838397448, ss3864269156, ss3911046595, ss5176865945, ss5315144111, ss5364757625, ss5508433529, ss5640102717, ss5842037964, ss5968604454, ss5980357565	NC_000006.11:32420237:T:C	NC_000006.12:32452460:T:C	(self)
41147470, 221374418, 48567361, 535941112, 11942884583, ss3025610959, ss3648312129, ss3716922970, ss3807986764, ss3843839685, ss4698563554, ss5267957756, ss5553621535, ss5714730257, ss5807316040, ss5855288145, ss5883265593	NC_000006.12:32452460:T:C	NC_000006.12:32452460:T:C	(self)
ss11839964, ss22511789	NT_007592.13:23241678:T:C	NC_000006.12:32452460:T:C	(self)
ss12693719, ss98380650, ss104297835, ss142572988, ss156754776	NT_007592.15:32360237:T:C	NC_000006.12:32452460:T:C	(self)
ss12859911	NT_034874.2:3723639:T:C	NC_000006.12:32452460:T:C	(self)
ss4025230948	NT_167246.2:3756706:C:C	NC_000006.12:32452460:T:C	(self)
ss4025249764	NT_167247.2:3793332:C:C	NC_000006.12:32452460:T:C	(self)
ss4025289382	NT_167249.2:3767731:C:C	NC_000006.12:32452460:T:C	(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 rs7775108

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

rs7775108