Name: rs3747113
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.

rs3747113

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:24321550 (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: A=0.225732 (59749/264690, TOPMED)
A=0.245175 (61636/251396, GnomAD_exome)
A=0.256901 (49605/193090, ALFA) (+ 23 more)
A=0.224613 (31471/140112, GnomAD)
A=0.236814 (28726/121302, ExAC)
A=0.28565 (8072/28258, 14KJPN)
A=0.28741 (4817/16760, 8.3KJPN)
A=0.21336 (2775/13006, GO-ESP)
A=0.2060 (1319/6404, 1000G_30x)
A=0.2071 (1037/5008, 1000G)
A=0.2770 (1241/4480, Estonian)
A=0.2548 (982/3854, ALSPAC)
A=0.2540 (942/3708, TWINSUK)
A=0.3061 (897/2930, KOREAN)
A=0.2071 (391/1888, HapMap)
A=0.3106 (569/1832, Korea1K)
A=0.243 (243/998, GoNL)
A=0.380 (238/626, Chileans)
A=0.199 (122/612, Vietnamese)
A=0.248 (149/600, NorthernSweden)
A=0.272 (145/534, MGP)
A=0.243 (74/304, FINRISK)
G=0.417 (105/252, SGDP_PRJ)
A=0.222 (48/216, Qatari)
A=0.28 (11/40, GENOME_DK)
G=0.41 (9/22, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SPECC1L : Synonymous Variant
SPECC1L-ADORA2A : Non Coding Transcript Variant
Publications: 1 citation
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	209238	G=0.746313	A=0.253687
European	Sub	170804	G=0.740902	A=0.259098
African	Sub	12808	G=0.85860	A=0.14140
African Others	Sub	446	G=0.901	A=0.099
African American	Sub	12362	G=0.85706	A=0.14294
Asian	Sub	734	G=0.744	A=0.256
East Asian	Sub	540	G=0.711	A=0.289
Other Asian	Sub	194	G=0.835	A=0.165
Latin American 1	Sub	1252	G=0.7740	A=0.2260
Latin American 2	Sub	8502	G=0.6833	A=0.3167
South Asian	Sub	196	G=0.811	A=0.189
Other	Sub	14942	G=0.74475	A=0.25525

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=0.774268	A=0.225732
gnomAD - Exomes	Global	Study-wide	251396	G=0.754825	A=0.245175
gnomAD - Exomes	European	Sub	135342	G=0.744292	A=0.255708
gnomAD - Exomes	Asian	Sub	49004	G=0.80244	A=0.19756
gnomAD - Exomes	American	Sub	34582	G=0.67599	A=0.32401
gnomAD - Exomes	African	Sub	16252	G=0.86402	A=0.13598
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	G=0.76642	A=0.23358
gnomAD - Exomes	Other	Sub	6138	G=0.7429	A=0.2571
Allele Frequency Aggregator	Total	Global	193090	G=0.743099	A=0.256901
Allele Frequency Aggregator	European	Sub	160912	G=0.740423	A=0.259577
Allele Frequency Aggregator	Other	Sub	13512	G=0.74290	A=0.25710
Allele Frequency Aggregator	Latin American 2	Sub	8502	G=0.6833	A=0.3167
Allele Frequency Aggregator	African	Sub	7982	G=0.8545	A=0.1455
Allele Frequency Aggregator	Latin American 1	Sub	1252	G=0.7740	A=0.2260
Allele Frequency Aggregator	Asian	Sub	734	G=0.744	A=0.256
Allele Frequency Aggregator	South Asian	Sub	196	G=0.811	A=0.189
gnomAD - Genomes	Global	Study-wide	140112	G=0.775387	A=0.224613
gnomAD - Genomes	European	Sub	75868	G=0.73902	A=0.26098
gnomAD - Genomes	African	Sub	41990	G=0.86235	A=0.13765
gnomAD - Genomes	American	Sub	13648	G=0.71095	A=0.28905
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7654	A=0.2346
gnomAD - Genomes	East Asian	Sub	3132	G=0.7867	A=0.2133
gnomAD - Genomes	Other	Sub	2154	G=0.7683	A=0.2317
ExAC	Global	Study-wide	121302	G=0.763186	A=0.236814
ExAC	Europe	Sub	73310	G=0.74916	A=0.25084
ExAC	Asian	Sub	25142	G=0.80399	A=0.19601
ExAC	American	Sub	11558	G=0.67477	A=0.32523
ExAC	African	Sub	10384	G=0.86315	A=0.13685
ExAC	Other	Sub	908	G=0.748	A=0.252
14KJPN	JAPANESE	Study-wide	28258	G=0.71435	A=0.28565
8.3KJPN	JAPANESE	Study-wide	16760	G=0.71259	A=0.28741
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.78664	A=0.21336
GO Exome Sequencing Project	European American	Sub	8600	G=0.7474	A=0.2526
GO Exome Sequencing Project	African American	Sub	4406	G=0.8631	A=0.1369
1000Genomes_30x	Global	Study-wide	6404	G=0.7940	A=0.2060
1000Genomes_30x	African	Sub	1786	G=0.8858	A=0.1142
1000Genomes_30x	Europe	Sub	1266	G=0.7409	A=0.2591
1000Genomes_30x	South Asian	Sub	1202	G=0.8253	A=0.1747
1000Genomes_30x	East Asian	Sub	1170	G=0.7821	A=0.2179
1000Genomes_30x	American	Sub	980	G=0.671	A=0.329
1000Genomes	Global	Study-wide	5008	G=0.7929	A=0.2071
1000Genomes	African	Sub	1322	G=0.8873	A=0.1127
1000Genomes	East Asian	Sub	1008	G=0.7698	A=0.2302
1000Genomes	Europe	Sub	1006	G=0.7346	A=0.2654
1000Genomes	South Asian	Sub	978	G=0.827	A=0.173
1000Genomes	American	Sub	694	G=0.683	A=0.317
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7230	A=0.2770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7452	A=0.2548
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7460	A=0.2540
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6939	A=0.3061
HapMap	Global	Study-wide	1888	G=0.7929	A=0.2071
HapMap	American	Sub	770	G=0.794	A=0.206
HapMap	African	Sub	692	G=0.850	A=0.150
HapMap	Asian	Sub	252	G=0.667	A=0.333
HapMap	Europe	Sub	174	G=0.747	A=0.253
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6894	A=0.3106
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.757	A=0.243
Chileans	Chilean	Study-wide	626	G=0.620	A=0.380
A Vietnamese Genetic Variation Database	Global	Study-wide	612	G=0.801	A=0.199
Northern Sweden	ACPOP	Study-wide	600	G=0.752	A=0.248
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.728	A=0.272
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.757	A=0.243
SGDP_PRJ	Global	Study-wide	252	G=0.417	A=0.583
Qatari	Global	Study-wide	216	G=0.778	A=0.222
The Danish reference pan genome	Danish	Study-wide	40	G=0.72	A=0.28
Siberian	Global	Study-wide	22	G=0.41	A=0.59

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 22	NC_000022.11:g.24321550G>A
GRCh37.p13 chr 22	NC_000022.10:g.24717518G>A
SPECC1L RefSeqGene	NG_031915.2:g.55729G>A

Gene: SPECC1L, sperm antigen with calponin homology and coiled-coil domains 1 like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPECC1L transcript variant 4	NM_001254733.2:c.	N/A	Genic Upstream Transcript Variant
SPECC1L transcript variant 1	NM_015330.6:c.570G>A	T [ACG] > T [ACA]	Coding Sequence Variant
cytospin-A isoform 1	NP_056145.5:p.Thr190=	T (Thr) > T (Thr)	Synonymous Variant
SPECC1L transcript variant 3	NM_001254732.3:c.570G>A	T [ACG] > T [ACA]	Coding Sequence Variant
cytospin-A isoform 2	NP_001241661.3:p.Thr190=	T (Thr) > T (Thr)	Synonymous Variant
SPECC1L transcript variant 2	NM_001145468.4:c.570G>A	T [ACG] > T [ACA]	Coding Sequence Variant
cytospin-A isoform 1	NP_001138940.4:p.Thr190=	T (Thr) > T (Thr)	Synonymous Variant

Gene: SPECC1L-ADORA2A, SPECC1L-ADORA2A readthrough (NMD candidate) (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPECC1L-ADORA2A transcript	NR_103546.1:n.878G>A	N/A	Non Coding Transcript 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: A (allele ID: 1271210 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001696033.4	not provided	Benign
RCV001726613.2	not specified	Benign
RCV001810261.2	Oculomaxillofacial dysostosis	Benign
RCV001810262.2	Autosomal dominant Opitz G/BBB syndrome	Benign
RCV001810263.2	Teebi hypertelorism syndrome	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	G=	A
GRCh38.p14 chr 22	NC_000022.11:g.24321550=	NC_000022.11:g.24321550G>A
GRCh37.p13 chr 22	NC_000022.10:g.24717518=	NC_000022.10:g.24717518G>A
SPECC1L RefSeqGene	NG_031915.2:g.55729=	NG_031915.2:g.55729G>A
SPECC1L transcript variant 1	NM_015330.6:c.570=	NM_015330.6:c.570G>A
SPECC1L transcript variant 1	NM_015330.5:c.570=	NM_015330.5:c.570G>A
SPECC1L transcript variant 1	NM_015330.4:c.570=	NM_015330.4:c.570G>A
SPECC1L transcript variant 2	NM_001145468.4:c.570=	NM_001145468.4:c.570G>A
SPECC1L transcript variant 2	NM_001145468.3:c.570=	NM_001145468.3:c.570G>A
SPECC1L transcript variant 3	NM_001254732.3:c.570=	NM_001254732.3:c.570G>A
SPECC1L transcript variant 3	NM_001254732.2:c.570=	NM_001254732.2:c.570G>A
SPECC1L-ADORA2A transcript	NR_103546.1:n.878=	NR_103546.1:n.878G>A
cytospin-A isoform 1	NP_056145.5:p.Thr190=	NP_056145.5:p.Thr190=
cytospin-A isoform 1	NP_001138940.4:p.Thr190=	NP_001138940.4:p.Thr190=
cytospin-A isoform 2	NP_001241661.3:p.Thr190=	NP_001241661.3:p.Thr190=
cytospin-A isoform 1	NP_001138940.3:p.Thr190=	NP_001138940.3:p.Thr190=
cytospin-A isoform 2	NP_001241661.2:p.Thr190=	NP_001241661.2:p.Thr190=
cytospin-A isoform 1	NP_056145.4:p.Thr190=	NP_056145.4:p.Thr190=
SPECC1L transcript variant X3	XM_005261408.1:c.-61+227=	XM_005261408.1:c.-61+227G>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#.

137 SubSNP, 26 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4933135	Aug 28, 2002 (107)
2	BCM_SSAHASNP	ss11009221	Jul 11, 2003 (116)
3	SSAHASNP	ss21856442	Apr 05, 2004 (121)
4	ABI	ss44307643	Mar 15, 2006 (126)
5	ILLUMINA	ss65734343	Oct 15, 2006 (127)
6	KRIBB_YJKIM	ss65828285	Nov 30, 2006 (127)
7	AFFY	ss66316002	Nov 30, 2006 (127)
8	ILLUMINA	ss74869008	Dec 07, 2007 (129)
9	AFFY	ss76000111	Dec 08, 2007 (130)
10	SI_EXO	ss76885127	Dec 07, 2007 (129)
11	KRIBB_YJKIM	ss81945428	Dec 14, 2007 (130)
12	CORNELL	ss86263066	Mar 23, 2008 (129)
13	HUMANGENOME_JCVI	ss96117710	Feb 03, 2009 (130)
14	BGI	ss103847084	Dec 01, 2009 (131)
15	ILLUMINA-UK	ss117373365	Feb 14, 2009 (130)
16	ENSEMBL	ss143690681	Dec 01, 2009 (131)
17	SEATTLESEQ	ss159744063	Dec 01, 2009 (131)
18	ILLUMINA	ss160635599	Dec 01, 2009 (131)
19	AFFY	ss170230240	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss171865855	Jul 04, 2010 (132)
21	ILLUMINA	ss173621427	Jul 04, 2010 (132)
22	BUSHMAN	ss204060693	Jul 04, 2010 (132)
23	1000GENOMES	ss228634482	Jul 14, 2010 (132)
24	1000GENOMES	ss238034457	Jul 15, 2010 (132)
25	1000GENOMES	ss244161649	Jul 15, 2010 (132)
26	BL	ss255860114	May 09, 2011 (134)
27	GMI	ss283602393	May 04, 2012 (137)
28	PJP	ss292743063	May 09, 2011 (134)
29	NHLBI-ESP	ss342538663	May 09, 2011 (134)
30	ILLUMINA	ss480812747	May 04, 2012 (137)
31	ILLUMINA	ss480828373	May 04, 2012 (137)
32	ILLUMINA	ss481757198	Sep 08, 2015 (146)
33	ILLUMINA	ss485201164	May 04, 2012 (137)
34	1000GENOMES	ss491189660	May 04, 2012 (137)
35	GSK-GENETICS	ss491264945	May 04, 2012 (137)
36	CLINSEQ_SNP	ss491821471	May 04, 2012 (137)
37	ILLUMINA	ss537187549	Sep 08, 2015 (146)
38	TISHKOFF	ss566581119	Apr 25, 2013 (138)
39	SSMP	ss662510377	Apr 25, 2013 (138)
40	ILLUMINA	ss778894277	Sep 08, 2015 (146)
41	ILLUMINA	ss783046579	Sep 08, 2015 (146)
42	ILLUMINA	ss784005391	Sep 08, 2015 (146)
43	ILLUMINA	ss832304370	Sep 08, 2015 (146)
44	ILLUMINA	ss834355443	Sep 08, 2015 (146)
45	JMKIDD_LAB	ss974512300	Aug 21, 2014 (142)
46	EVA-GONL	ss995256983	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067604769	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1082592410	Aug 21, 2014 (142)
49	1000GENOMES	ss1366817926	Aug 21, 2014 (142)
50	DDI	ss1429231476	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1579717145	Apr 01, 2015 (144)
52	EVA_FINRISK	ss1584126887	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1639811708	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1682805741	Apr 01, 2015 (144)
55	EVA_EXAC	ss1694272911	Apr 01, 2015 (144)
56	EVA_DECODE	ss1699325039	Apr 01, 2015 (144)
57	EVA_MGP	ss1711564211	Apr 01, 2015 (144)
58	EVA_SVP	ss1713733598	Apr 01, 2015 (144)
59	ILLUMINA	ss1752415596	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1809749017	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1938823565	Feb 12, 2016 (147)
62	GENOMED	ss1969253919	Jul 19, 2016 (147)
63	JJLAB	ss2030183903	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2158796399	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2246643813	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2629590363	Nov 08, 2017 (151)
67	ILLUMINA	ss2633866171	Nov 08, 2017 (151)
68	GRF	ss2704545161	Nov 08, 2017 (151)
69	GNOMAD	ss2745025990	Nov 08, 2017 (151)
70	GNOMAD	ss2750520658	Nov 08, 2017 (151)
71	GNOMAD	ss2973401403	Nov 08, 2017 (151)
72	AFFY	ss2985235074	Nov 08, 2017 (151)
73	SWEGEN	ss3019157803	Nov 08, 2017 (151)
74	EVA_SAMSUNG_MC	ss3023073416	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3028929274	Nov 08, 2017 (151)
76	CSHL	ss3352795478	Nov 08, 2017 (151)
77	ILLUMINA	ss3628512411	Oct 12, 2018 (152)
78	ILLUMINA	ss3631818152	Oct 12, 2018 (152)
79	ILLUMINA	ss3633269735	Oct 12, 2018 (152)
80	ILLUMINA	ss3633985294	Oct 12, 2018 (152)
81	ILLUMINA	ss3634862572	Oct 12, 2018 (152)
82	ILLUMINA	ss3635669827	Oct 12, 2018 (152)
83	ILLUMINA	ss3636558451	Oct 12, 2018 (152)
84	ILLUMINA	ss3637422051	Oct 12, 2018 (152)
85	ILLUMINA	ss3638376728	Oct 12, 2018 (152)
86	ILLUMINA	ss3640569872	Oct 12, 2018 (152)
87	ILLUMINA	ss3643336945	Oct 12, 2018 (152)
88	OMUKHERJEE_ADBS	ss3646564955	Oct 12, 2018 (152)
89	URBANLAB	ss3651161010	Oct 12, 2018 (152)
90	ILLUMINA	ss3654002866	Oct 12, 2018 (152)
91	EGCUT_WGS	ss3685659981	Jul 13, 2019 (153)
92	EVA_DECODE	ss3708019599	Jul 13, 2019 (153)
93	ACPOP	ss3743853577	Jul 13, 2019 (153)
94	ILLUMINA	ss3745162393	Jul 13, 2019 (153)
95	EVA	ss3759272554	Jul 13, 2019 (153)
96	ILLUMINA	ss3772658379	Jul 13, 2019 (153)
97	PACBIO	ss3788803883	Jul 13, 2019 (153)
98	PACBIO	ss3793673470	Jul 13, 2019 (153)
99	PACBIO	ss3798559883	Jul 13, 2019 (153)
100	KHV_HUMAN_GENOMES	ss3822439306	Jul 13, 2019 (153)
101	EVA	ss3825431848	Apr 27, 2020 (154)
102	EVA	ss3825534167	Apr 27, 2020 (154)
103	EVA	ss3825548423	Apr 27, 2020 (154)
104	EVA	ss3825967402	Apr 27, 2020 (154)
105	EVA	ss3835944508	Apr 27, 2020 (154)
106	EVA	ss3841601015	Apr 27, 2020 (154)
107	EVA	ss3847115589	Apr 27, 2020 (154)
108	SGDP_PRJ	ss3890357813	Apr 27, 2020 (154)
109	KRGDB	ss3940749743	Apr 27, 2020 (154)
110	KOGIC	ss3983456969	Apr 27, 2020 (154)
111	FSA-LAB	ss3984232084	Apr 27, 2021 (155)
112	EVA	ss3986857074	Apr 27, 2021 (155)
113	EVA	ss4017875399	Apr 27, 2021 (155)
114	TOPMED	ss5106167770	Apr 27, 2021 (155)
115	TOMMO_GENOMICS	ss5232220112	Apr 27, 2021 (155)
116	EVA	ss5236989691	Apr 27, 2021 (155)
117	EVA	ss5237255372	Apr 27, 2021 (155)
118	EVA	ss5237676021	Oct 16, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5310788711	Oct 16, 2022 (156)
120	TRAN_CS_UWATERLOO	ss5314457387	Oct 16, 2022 (156)
121	EVA	ss5316048994	Oct 16, 2022 (156)
122	EVA	ss5440745090	Oct 16, 2022 (156)
123	HUGCELL_USP	ss5502663343	Oct 16, 2022 (156)
124	EVA	ss5512354620	Oct 16, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5618204154	Oct 16, 2022 (156)
126	EVA	ss5624121133	Oct 16, 2022 (156)
127	SANFORD_IMAGENETICS	ss5664319941	Oct 16, 2022 (156)
128	TOMMO_GENOMICS	ss5793213728	Oct 16, 2022 (156)
129	EVA	ss5800038246	Oct 16, 2022 (156)
130	EVA	ss5800235043	Oct 16, 2022 (156)
131	YY_MCH	ss5818633470	Oct 16, 2022 (156)
132	EVA	ss5821949096	Oct 16, 2022 (156)
133	EVA	ss5848564586	Oct 16, 2022 (156)
134	EVA	ss5853360337	Oct 16, 2022 (156)
135	EVA	ss5881471138	Oct 16, 2022 (156)
136	EVA	ss5959171354	Oct 16, 2022 (156)
137	EVA	ss5981128140	Oct 16, 2022 (156)
138	1000Genomes	NC_000022.10 - 24717518	Oct 12, 2018 (152)
139	1000Genomes_30x	NC_000022.11 - 24321550	Oct 16, 2022 (156)
140	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 24717518	Oct 12, 2018 (152)
141	Chileans	NC_000022.10 - 24717518	Apr 27, 2020 (154)
142	Genetic variation in the Estonian population	NC_000022.10 - 24717518	Oct 12, 2018 (152)
143	ExAC	NC_000022.10 - 24717518	Oct 12, 2018 (152)
144	FINRISK	NC_000022.10 - 24717518	Apr 27, 2020 (154)
145	The Danish reference pan genome	NC_000022.10 - 24717518	Apr 27, 2020 (154)
146	gnomAD - Genomes	NC_000022.11 - 24321550	Apr 27, 2021 (155)
147	gnomAD - Exomes	NC_000022.10 - 24717518	Jul 13, 2019 (153)
148	GO Exome Sequencing Project	NC_000022.10 - 24717518	Oct 12, 2018 (152)
149	Genome of the Netherlands Release 5	NC_000022.10 - 24717518	Apr 27, 2020 (154)
150	HapMap	NC_000022.11 - 24321550	Apr 27, 2020 (154)
151	KOREAN population from KRGDB	NC_000022.10 - 24717518	Apr 27, 2020 (154)
152	Korean Genome Project	NC_000022.11 - 24321550	Apr 27, 2020 (154)
153	Medical Genome Project healthy controls from Spanish population	NC_000022.10 - 24717518	Apr 27, 2020 (154)
154	Northern Sweden	NC_000022.10 - 24717518	Jul 13, 2019 (153)
155	Qatari	NC_000022.10 - 24717518	Apr 27, 2020 (154)
156	SGDP_PRJ	NC_000022.10 - 24717518	Apr 27, 2020 (154)
157	Siberian	NC_000022.10 - 24717518	Apr 27, 2020 (154)
158	8.3KJPN	NC_000022.10 - 24717518	Apr 27, 2021 (155)
159	14KJPN	NC_000022.11 - 24321550	Oct 16, 2022 (156)
160	TopMed	NC_000022.11 - 24321550	Apr 27, 2021 (155)
161	UK 10K study - Twins	NC_000022.10 - 24717518	Oct 12, 2018 (152)
162	A Vietnamese Genetic Variation Database	NC_000022.10 - 24717518	Jul 13, 2019 (153)
163	ALFA	NC_000022.11 - 24321550	Apr 27, 2021 (155)
164	ClinVar	RCV001696033.4	Oct 16, 2022 (156)
165	ClinVar	RCV001726613.2	Oct 16, 2022 (156)
166	ClinVar	RCV001810261.2	Oct 16, 2022 (156)
167	ClinVar	RCV001810262.2	Oct 16, 2022 (156)
168	ClinVar	RCV001810263.2	Oct 16, 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)
rs56613118	May 23, 2008 (130)
rs57375593	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66316002, ss76000111, ss117373365, ss170230240, ss171865855, ss204060693, ss255860114, ss283602393, ss292743063, ss480812747, ss491264945, ss491821471, ss1699325039, ss1713733598, ss3643336945	NC_000022.9:23047517:G:A	NC_000022.11:24321549:G:A	(self)
80356960, 44446203, 268652, 31398229, 5848536, 123348, 5882084, 14355797, 1888694, 19804943, 47927137, 679971, 17138442, 20865487, 42374793, 11312753, 90189419, 44446203, 9807731, ss228634482, ss238034457, ss244161649, ss342538663, ss480828373, ss481757198, ss485201164, ss491189660, ss537187549, ss566581119, ss662510377, ss778894277, ss783046579, ss784005391, ss832304370, ss834355443, ss974512300, ss995256983, ss1067604769, ss1082592410, ss1366817926, ss1429231476, ss1579717145, ss1584126887, ss1639811708, ss1682805741, ss1694272911, ss1711564211, ss1752415596, ss1809749017, ss1938823565, ss1969253919, ss2030183903, ss2158796399, ss2629590363, ss2633866171, ss2704545161, ss2745025990, ss2750520658, ss2973401403, ss2985235074, ss3019157803, ss3023073416, ss3352795478, ss3628512411, ss3631818152, ss3633269735, ss3633985294, ss3634862572, ss3635669827, ss3636558451, ss3637422051, ss3638376728, ss3640569872, ss3646564955, ss3654002866, ss3685659981, ss3743853577, ss3745162393, ss3759272554, ss3772658379, ss3788803883, ss3793673470, ss3798559883, ss3825431848, ss3825534167, ss3825548423, ss3825967402, ss3835944508, ss3841601015, ss3890357813, ss3940749743, ss3984232084, ss3986857074, ss4017875399, ss5232220112, ss5316048994, ss5440745090, ss5512354620, ss5624121133, ss5664319941, ss5800038246, ss5800235043, ss5821949096, ss5848564586, ss5959171354, ss5981128140	NC_000022.10:24717517:G:A	NC_000022.11:24321549:G:A	(self)
RCV001696033.4, RCV001726613.2, RCV001810261.2, RCV001810262.2, RCV001810263.2, 105730089, 567464661, 2234126, 39834970, 127050832, 381276717, 14354378440, ss2246643813, ss3028929274, ss3651161010, ss3708019599, ss3822439306, ss3847115589, ss3983456969, ss5106167770, ss5236989691, ss5237255372, ss5237676021, ss5310788711, ss5314457387, ss5502663343, ss5618204154, ss5793213728, ss5818633470, ss5853360337, ss5881471138	NC_000022.11:24321549:G:A	NC_000022.11:24321549:G:A	(self)
ss11009221, ss21856442	NT_011520.9:4108086:G:A	NC_000022.11:24321549:G:A	(self)
ss76885127	NT_011520.11:4108086:G:A	NC_000022.11:24321549:G:A	(self)
ss4933135, ss44307643, ss65734343, ss65828285, ss74869008, ss81945428, ss86263066, ss96117710, ss103847084, ss143690681, ss159744063, ss160635599, ss173621427	NT_011520.12:4108086:G:A	NC_000022.11:24321549:G:A	(self)

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

1 citation for rs3747113

PMID	Title	Author	Year	Journal
26528553	Genome-Wide Association Studies of the Human Gut Microbiota.	Davenport ER et al.	2015	PloS one

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

rs3747113