Name: rs4711809
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.

rs4711809

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:45012604 (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: T=0.127466 (33739/264690, TOPMED)
T=0.115424 (16167/140066, GnomAD)
T=0.12313 (8465/68746, ALFA) (+ 19 more)
T=0.27838 (7866/28256, 14KJPN)
T=0.27930 (4681/16760, 8.3KJPN)
T=0.1394 (893/6404, 1000G_30x)
T=0.1426 (714/5008, 1000G)
T=0.1444 (647/4480, Estonian)
T=0.1168 (450/3854, ALSPAC)
T=0.1289 (478/3708, TWINSUK)
T=0.3065 (898/2930, KOREAN)
T=0.1902 (396/2082, HGDP_Stanford)
T=0.3013 (552/1832, Korea1K)
T=0.1355 (238/1756, HapMap)
T=0.1734 (197/1136, Daghestan)
T=0.117 (117/998, GoNL)
T=0.108 (65/600, NorthernSweden)
T=0.213 (46/216, Qatari)
C=0.422 (65/154, SGDP_PRJ)
T=0.15 (6/40, GENOME_DK)
T=0.00 (0/26, Ancient Sardinia)
C=0.46 (12/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SUPT3H : 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	68746	C=0.87687	T=0.12313
European	Sub	53518	C=0.87329	T=0.12671
African	Sub	7140	C=0.9569	T=0.0431
African Others	Sub	254	C=0.984	T=0.016
African American	Sub	6886	C=0.9559	T=0.0441
Asian	Sub	190	C=0.789	T=0.211
East Asian	Sub	148	C=0.797	T=0.203
Other Asian	Sub	42	C=0.76	T=0.24
Latin American 1	Sub	252	C=0.845	T=0.155
Latin American 2	Sub	1230	C=0.7081	T=0.2919
South Asian	Sub	4948	C=0.8508	T=0.1492
Other	Sub	1468	C=0.8638	T=0.1362

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=0.872534	T=0.127466
gnomAD - Genomes	Global	Study-wide	140066	C=0.884576	T=0.115424
gnomAD - Genomes	European	Sub	75860	C=0.87693	T=0.12307
gnomAD - Genomes	African	Sub	42018	C=0.95347	T=0.04653
gnomAD - Genomes	American	Sub	13602	C=0.76570	T=0.23430
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8334	T=0.1666
gnomAD - Genomes	East Asian	Sub	3116	C=0.7266	T=0.2734
gnomAD - Genomes	Other	Sub	2150	C=0.8679	T=0.1321
Allele Frequency Aggregator	Total	Global	68746	C=0.87687	T=0.12313
Allele Frequency Aggregator	European	Sub	53518	C=0.87329	T=0.12671
Allele Frequency Aggregator	African	Sub	7140	C=0.9569	T=0.0431
Allele Frequency Aggregator	South Asian	Sub	4948	C=0.8508	T=0.1492
Allele Frequency Aggregator	Other	Sub	1468	C=0.8638	T=0.1362
Allele Frequency Aggregator	Latin American 2	Sub	1230	C=0.7081	T=0.2919
Allele Frequency Aggregator	Latin American 1	Sub	252	C=0.845	T=0.155
Allele Frequency Aggregator	Asian	Sub	190	C=0.789	T=0.211
14KJPN	JAPANESE	Study-wide	28256	C=0.72162	T=0.27838
8.3KJPN	JAPANESE	Study-wide	16760	C=0.72070	T=0.27930
1000Genomes_30x	Global	Study-wide	6404	C=0.8606	T=0.1394
1000Genomes_30x	African	Sub	1786	C=0.9776	T=0.0224
1000Genomes_30x	Europe	Sub	1266	C=0.8744	T=0.1256
1000Genomes_30x	South Asian	Sub	1202	C=0.8827	T=0.1173
1000Genomes_30x	East Asian	Sub	1170	C=0.7410	T=0.2590
1000Genomes_30x	American	Sub	980	C=0.745	T=0.255
1000Genomes	Global	Study-wide	5008	C=0.8574	T=0.1426
1000Genomes	African	Sub	1322	C=0.9758	T=0.0242
1000Genomes	East Asian	Sub	1008	C=0.7480	T=0.2520
1000Genomes	Europe	Sub	1006	C=0.8718	T=0.1282
1000Genomes	South Asian	Sub	978	C=0.875	T=0.125
1000Genomes	American	Sub	694	C=0.745	T=0.255
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8556	T=0.1444
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8832	T=0.1168
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8711	T=0.1289
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6935	T=0.3065
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.8098	T=0.1902
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.747	T=0.253
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.838	T=0.162
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.811	T=0.189
HGDP-CEPH-db Supplement 1	Europe	Sub	318	C=0.862	T=0.138
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.921	T=0.079
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.630	T=0.370
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.99	T=0.01
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6987	T=0.3013
HapMap	Global	Study-wide	1756	C=0.8645	T=0.1355
HapMap	American	Sub	754	C=0.840	T=0.160
HapMap	African	Sub	582	C=0.964	T=0.036
HapMap	Asian	Sub	248	C=0.726	T=0.274
HapMap	Europe	Sub	172	C=0.837	T=0.163
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.8266	T=0.1734
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.820	T=0.180
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.854	T=0.146
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.713	T=0.287
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.889	T=0.111
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.89	T=0.11
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.86	T=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.883	T=0.117
Northern Sweden	ACPOP	Study-wide	600	C=0.892	T=0.108
Qatari	Global	Study-wide	216	C=0.787	T=0.213
SGDP_PRJ	Global	Study-wide	154	C=0.422	T=0.578
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	T=0.15
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	26	C=1.00	T=0.00
Siberian	Global	Study-wide	26	C=0.46	T=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.45012604C>T
GRCh37.p13 chr 6	NC_000006.11:g.44980341C>T

Gene: SUPT3H, SPT3 homolog, SAGA and STAGA complex component (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SUPT3H transcript variant 3	NM_001261823.2:c.-93+7942… NM_001261823.2:c.-93+7942G>A	N/A	Intron Variant
SUPT3H transcript variant 4	NM_001350324.2:c.364+2197… NM_001350324.2:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 5	NM_001350325.2:c.358+2197… NM_001350325.2:c.358+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 6	NM_001350326.2:c.301+2197… NM_001350326.2:c.301+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 7	NM_001350327.2:c.106+2197… NM_001350327.2:c.106+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 8	NM_001350329.2:c.364+2197… NM_001350329.2:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 1	NM_003599.4:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 2	NM_181356.3:c.397+2197G>A	N/A	Intron Variant
SUPT3H transcript variant 9	NR_146632.2:n.	N/A	Intron Variant
SUPT3H transcript variant 10	NR_146633.1:n.	N/A	Intron Variant
SUPT3H transcript variant 11	NR_146634.2:n.	N/A	Intron Variant
SUPT3H transcript variant 12	NR_146635.2:n.	N/A	Intron Variant
SUPT3H transcript variant X2	XM_011514949.4:c.397+2197… XM_011514949.4:c.397+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X3	XM_011514952.3:c.364+2197… XM_011514952.3:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X4	XM_011514953.4:c.364+2197… XM_011514953.4:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X5	XM_011514954.4:c.364+2197… XM_011514954.4:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X17	XM_017011370.2:c.397+2197… XM_017011370.2:c.397+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X10	XM_017011371.2:c.364+2197… XM_017011371.2:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X14	XM_017011374.3:c.106+2197… XM_017011374.3:c.106+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X7	XM_024446572.2:c.364+2197… XM_024446572.2:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X8	XM_047419416.1:c.364+2197… XM_047419416.1:c.364+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X11	XM_047419417.1:c.397+2197… XM_047419417.1:c.397+2197G>A	N/A	Intron Variant
SUPT3H transcript variant X15	XR_001743692.2:n.	N/A	Intron Variant
SUPT3H transcript variant X9	XR_007059345.1:n.	N/A	Intron Variant
SUPT3H transcript variant X13	XR_007059346.1:n.	N/A	Intron Variant
SUPT3H transcript variant X16	XR_007059347.1:n.	N/A	Intron Variant
SUPT3H transcript variant X1	XR_926319.4:n.	N/A	Intron Variant
SUPT3H transcript variant X6	XR_926320.1:n.	N/A	Intron Variant
SUPT3H transcript variant X12	XR_926321.1:n.	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	C=	T
GRCh38.p14 chr 6	NC_000006.12:g.45012604=	NC_000006.12:g.45012604C>T
GRCh37.p13 chr 6	NC_000006.11:g.44980341=	NC_000006.11:g.44980341C>T
SUPT3H transcript variant 3	NM_001261823.1:c.-93+7942=	NM_001261823.1:c.-93+7942G>A
SUPT3H transcript variant 3	NM_001261823.2:c.-93+7942=	NM_001261823.2:c.-93+7942G>A
SUPT3H transcript variant 4	NM_001350324.2:c.364+2197=	NM_001350324.2:c.364+2197G>A
SUPT3H transcript variant 5	NM_001350325.2:c.358+2197=	NM_001350325.2:c.358+2197G>A
SUPT3H transcript variant 6	NM_001350326.2:c.301+2197=	NM_001350326.2:c.301+2197G>A
SUPT3H transcript variant 7	NM_001350327.2:c.106+2197=	NM_001350327.2:c.106+2197G>A
SUPT3H transcript variant 8	NM_001350329.2:c.364+2197=	NM_001350329.2:c.364+2197G>A
SUPT3H transcript variant 1	NM_003599.3:c.364+2197=	NM_003599.3:c.364+2197G>A
SUPT3H transcript variant 1	NM_003599.4:c.364+2197=	NM_003599.4:c.364+2197G>A
SUPT3H transcript variant 2	NM_181356.2:c.397+2197=	NM_181356.2:c.397+2197G>A
SUPT3H transcript variant 2	NM_181356.3:c.397+2197=	NM_181356.3:c.397+2197G>A
SUPT3H transcript variant X1	XM_005249450.1:c.364+2197=	XM_005249450.1:c.364+2197G>A
SUPT3H transcript variant X2	XM_005249451.1:c.364+2197=	XM_005249451.1:c.364+2197G>A
SUPT3H transcript variant X3	XM_005249452.1:c.364+2197=	XM_005249452.1:c.364+2197G>A
SUPT3H transcript variant X2	XM_011514949.4:c.397+2197=	XM_011514949.4:c.397+2197G>A
SUPT3H transcript variant X3	XM_011514952.3:c.364+2197=	XM_011514952.3:c.364+2197G>A
SUPT3H transcript variant X4	XM_011514953.4:c.364+2197=	XM_011514953.4:c.364+2197G>A
SUPT3H transcript variant X5	XM_011514954.4:c.364+2197=	XM_011514954.4:c.364+2197G>A
SUPT3H transcript variant X17	XM_017011370.2:c.397+2197=	XM_017011370.2:c.397+2197G>A
SUPT3H transcript variant X10	XM_017011371.2:c.364+2197=	XM_017011371.2:c.364+2197G>A
SUPT3H transcript variant X14	XM_017011374.3:c.106+2197=	XM_017011374.3:c.106+2197G>A
SUPT3H transcript variant X7	XM_024446572.2:c.364+2197=	XM_024446572.2:c.364+2197G>A
SUPT3H transcript variant X8	XM_047419416.1:c.364+2197=	XM_047419416.1:c.364+2197G>A
SUPT3H transcript variant X11	XM_047419417.1:c.397+2197=	XM_047419417.1:c.397+2197G>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#.

79 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6492586	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss11154234	Jul 11, 2003 (126)
3	ILLUMINA	ss70925936	May 25, 2008 (130)
4	ILLUMINA	ss71526850	May 17, 2007 (127)
5	ILLUMINA	ss74929005	Dec 06, 2007 (129)
6	ILLUMINA	ss79255804	Dec 15, 2007 (130)
7	HUMANGENOME_JCVI	ss98495363	Feb 05, 2009 (130)
8	BGI	ss105997529	Feb 05, 2009 (130)
9	ILLUMINA	ss122749511	Dec 01, 2009 (131)
10	ENSEMBL	ss139680543	Dec 01, 2009 (131)
11	ILLUMINA	ss154310011	Dec 01, 2009 (131)
12	GMI	ss156877169	Dec 01, 2009 (131)
13	ILLUMINA	ss159486750	Dec 01, 2009 (131)
14	ILLUMINA	ss171874595	Jul 04, 2010 (132)
15	ILLUMINA	ss173787298	Jul 04, 2010 (132)
16	1000GENOMES	ss222368803	Jul 14, 2010 (132)
17	1000GENOMES	ss233454567	Jul 14, 2010 (132)
18	1000GENOMES	ss240515177	Jul 15, 2010 (132)
19	GMI	ss278778654	May 04, 2012 (137)
20	PJP	ss293589280	May 09, 2011 (134)
21	ILLUMINA	ss537262240	Sep 08, 2015 (146)
22	TISHKOFF	ss559179219	Apr 25, 2013 (138)
23	SSMP	ss653118906	Apr 25, 2013 (138)
24	ILLUMINA	ss825586322	Jul 19, 2016 (147)
25	ILLUMINA	ss832998162	Jul 13, 2019 (153)
26	EVA-GONL	ss982885721	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1073581689	Aug 21, 2014 (142)
28	1000GENOMES	ss1319953885	Aug 21, 2014 (142)
29	HAMMER_LAB	ss1397455180	Sep 08, 2015 (146)
30	DDI	ss1430708369	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1581654846	Apr 01, 2015 (144)
32	EVA_DECODE	ss1592421881	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1615487672	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1658481705	Apr 01, 2015 (144)
35	EVA_SVP	ss1712860506	Apr 01, 2015 (144)
36	WEILL_CORNELL_DGM	ss1926142079	Feb 12, 2016 (147)
37	GENOMED	ss1970386681	Jul 19, 2016 (147)
38	JJLAB	ss2023710824	Sep 14, 2016 (149)
39	USC_VALOUEV	ss2151889531	Dec 20, 2016 (150)
40	HUMAN_LONGEVITY	ss2283718746	Dec 20, 2016 (150)
41	ILLUMINA	ss2634448643	Nov 08, 2017 (151)
42	GRF	ss2707488500	Nov 08, 2017 (151)
43	GNOMAD	ss2838502198	Nov 08, 2017 (151)
44	SWEGEN	ss2998994508	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3025646457	Nov 08, 2017 (151)
46	CSHL	ss3346942504	Nov 08, 2017 (151)
47	ILLUMINA	ss3629540265	Oct 12, 2018 (152)
48	ILLUMINA	ss3638628772	Oct 12, 2018 (152)
49	ILLUMINA	ss3641194883	Oct 12, 2018 (152)
50	ILLUMINA	ss3641492034	Oct 12, 2018 (152)
51	ILLUMINA	ss3643569932	Oct 12, 2018 (152)
52	URBANLAB	ss3648341816	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3666886470	Jul 13, 2019 (153)
54	EVA_DECODE	ss3717126055	Jul 13, 2019 (153)
55	ACPOP	ss3733466845	Jul 13, 2019 (153)
56	EVA	ss3764969348	Jul 13, 2019 (153)
57	KHV_HUMAN_GENOMES	ss3808115779	Jul 13, 2019 (153)
58	EVA	ss3829901635	Apr 26, 2020 (154)
59	EVA	ss3838427312	Apr 26, 2020 (154)
60	EVA	ss3843871776	Apr 26, 2020 (154)
61	HGDP	ss3847833036	Apr 26, 2020 (154)
62	SGDP_PRJ	ss3864490926	Apr 26, 2020 (154)
63	KRGDB	ss3911297931	Apr 26, 2020 (154)
64	KOGIC	ss3958951035	Apr 26, 2020 (154)
65	EVA	ss3985221597	Apr 26, 2021 (155)
66	EVA	ss4017273749	Apr 26, 2021 (155)
67	TOPMED	ss4701453424	Apr 26, 2021 (155)
68	TOMMO_GENOMICS	ss5177309788	Apr 26, 2021 (155)
69	1000G_HIGH_COVERAGE	ss5268291939	Oct 17, 2022 (156)
70	HUGCELL_USP	ss5465980072	Oct 17, 2022 (156)
71	EVA	ss5508473733	Oct 17, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5554108062	Oct 17, 2022 (156)
73	SANFORD_IMAGENETICS	ss5640313170	Oct 17, 2022 (156)
74	TOMMO_GENOMICS	ss5715301040	Oct 17, 2022 (156)
75	YY_MCH	ss5807430347	Oct 17, 2022 (156)
76	EVA	ss5842183202	Oct 17, 2022 (156)
77	EVA	ss5855340313	Oct 17, 2022 (156)
78	EVA	ss5883639940	Oct 17, 2022 (156)
79	EVA	ss5968810376	Oct 17, 2022 (156)
80	1000Genomes	NC_000006.11 - 44980341	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000006.12 - 45012604	Oct 17, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 44980341	Oct 12, 2018 (152)
83	Genome-wide autozygosity in Daghestan	NC_000006.10 - 45088319	Apr 26, 2020 (154)
84	Genetic variation in the Estonian population	NC_000006.11 - 44980341	Oct 12, 2018 (152)
85	The Danish reference pan genome	NC_000006.11 - 44980341	Apr 26, 2020 (154)
86	gnomAD - Genomes	NC_000006.12 - 45012604	Apr 26, 2021 (155)
87	Genome of the Netherlands Release 5	NC_000006.11 - 44980341	Apr 26, 2020 (154)
88	HGDP-CEPH-db Supplement 1	NC_000006.10 - 45088319	Apr 26, 2020 (154)
89	HapMap	NC_000006.12 - 45012604	Apr 26, 2020 (154)
90	KOREAN population from KRGDB	NC_000006.11 - 44980341	Apr 26, 2020 (154)
91	Korean Genome Project	NC_000006.12 - 45012604	Apr 26, 2020 (154)
92	Northern Sweden	NC_000006.11 - 44980341	Jul 13, 2019 (153)
93	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 44980341	Apr 26, 2021 (155)
94	Qatari	NC_000006.11 - 44980341	Apr 26, 2020 (154)
95	SGDP_PRJ	NC_000006.11 - 44980341	Apr 26, 2020 (154)
96	Siberian	NC_000006.11 - 44980341	Apr 26, 2020 (154)
97	8.3KJPN	NC_000006.11 - 44980341	Apr 26, 2021 (155)
98	14KJPN	NC_000006.12 - 45012604	Oct 17, 2022 (156)
99	TopMed	NC_000006.12 - 45012604	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000006.11 - 44980341	Oct 12, 2018 (152)
101	ALFA	NC_000006.12 - 45012604	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)
rs7381322	Mar 11, 2006 (126)
rs59920390	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
429808, 510928, ss278778654, ss293589280, ss825586322, ss1397455180, ss1592421881, ss1712860506, ss3643569932, ss3847833036	NC_000006.10:45088318:C:T	NC_000006.12:45012603:C:T	(self)
31736408, 17699668, 12624718, 7819785, 7876309, 18475325, 6751710, 447524, 8184009, 16507906, 4405885, 35279095, 17699668, ss222368803, ss233454567, ss240515177, ss537262240, ss559179219, ss653118906, ss832998162, ss982885721, ss1073581689, ss1319953885, ss1430708369, ss1581654846, ss1615487672, ss1658481705, ss1926142079, ss1970386681, ss2023710824, ss2151889531, ss2634448643, ss2707488500, ss2838502198, ss2998994508, ss3346942504, ss3629540265, ss3638628772, ss3641194883, ss3641492034, ss3666886470, ss3733466845, ss3764969348, ss3829901635, ss3838427312, ss3864490926, ss3911297931, ss3985221597, ss4017273749, ss5177309788, ss5508473733, ss5640313170, ss5842183202, ss5968810376	NC_000006.11:44980340:C:T	NC_000006.12:45012603:C:T	(self)
41633997, 223917337, 3122691, 15329036, 49138144, 538830982, 11690675491, ss2283718746, ss3025646457, ss3648341816, ss3717126055, ss3808115779, ss3843871776, ss3958951035, ss4701453424, ss5268291939, ss5465980072, ss5554108062, ss5715301040, ss5807430347, ss5855340313, ss5883639940	NC_000006.12:45012603:C:T	NC_000006.12:45012603:C:T	(self)
ss11154234	NT_007592.13:35777467:C:T	NC_000006.12:45012603:C:T	(self)
ss6492586, ss70925936, ss71526850, ss74929005, ss79255804, ss98495363, ss105997529, ss122749511, ss139680543, ss154310011, ss156877169, ss159486750, ss171874595, ss173787298	NT_007592.15:44920340:C:T	NC_000006.12:45012603:C:T	(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 rs4711809

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

rs4711809