Name: rs1329716
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.

rs1329716

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:44986021 (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=0.482829 (127800/264690, TOPMED)
T=0.478793 (66965/139862, GnomAD)
T=0.46140 (13136/28470, ALFA) (+ 20 more)
C=0.29726 (8400/28258, 14KJPN)
C=0.29809 (4996/16760, 8.3KJPN)
C=0.4600 (2946/6404, 1000G_30x)
C=0.4571 (2289/5008, 1000G)
T=0.4116 (1844/4480, Estonian)
T=0.4180 (1611/3854, ALSPAC)
T=0.4156 (1541/3708, TWINSUK)
C=0.3341 (979/2930, KOREAN)
C=0.4511 (849/1882, HapMap)
C=0.3308 (606/1832, Korea1K)
T=0.4841 (549/1134, Daghestan)
T=0.415 (414/998, GoNL)
T=0.316 (198/626, Chileans)
T=0.453 (272/600, NorthernSweden)
C=0.260 (112/430, SGDP_PRJ)
T=0.356 (77/216, Qatari)
C=0.262 (56/214, Vietnamese)
C=0.45 (19/42, Siberian)
T=0.23 (9/40, GENOME_DK)
T=0.44 (8/18, Ancient Sardinia)

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	28470	C=0.53860	T=0.46140
European	Sub	17472	C=0.57452	T=0.42548
African	Sub	6258	C=0.4129	T=0.5871
African Others	Sub	210	C=0.314	T=0.686
African American	Sub	6048	C=0.4163	T=0.5837
Asian	Sub	162	C=0.278	T=0.722
East Asian	Sub	104	C=0.279	T=0.721
Other Asian	Sub	58	C=0.28	T=0.72
Latin American 1	Sub	290	C=0.552	T=0.448
Latin American 2	Sub	2768	C=0.6145	T=0.3855
South Asian	Sub	112	C=0.473	T=0.527
Other	Sub	1408	C=0.5348	T=0.4652

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=0.517171	T=0.482829
gnomAD - Genomes	Global	Study-wide	139862	C=0.521207	T=0.478793
gnomAD - Genomes	European	Sub	75762	C=0.57180	T=0.42820
gnomAD - Genomes	African	Sub	41906	C=0.42111	T=0.57889
gnomAD - Genomes	American	Sub	13608	C=0.59178	T=0.40822
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.5304	T=0.4696
gnomAD - Genomes	East Asian	Sub	3118	C=0.3082	T=0.6918
gnomAD - Genomes	Other	Sub	2148	C=0.5372	T=0.4628
Allele Frequency Aggregator	Total	Global	28470	C=0.53860	T=0.46140
Allele Frequency Aggregator	European	Sub	17472	C=0.57452	T=0.42548
Allele Frequency Aggregator	African	Sub	6258	C=0.4129	T=0.5871
Allele Frequency Aggregator	Latin American 2	Sub	2768	C=0.6145	T=0.3855
Allele Frequency Aggregator	Other	Sub	1408	C=0.5348	T=0.4652
Allele Frequency Aggregator	Latin American 1	Sub	290	C=0.552	T=0.448
Allele Frequency Aggregator	Asian	Sub	162	C=0.278	T=0.722
Allele Frequency Aggregator	South Asian	Sub	112	C=0.473	T=0.527
14KJPN	JAPANESE	Study-wide	28258	C=0.29726	T=0.70274
8.3KJPN	JAPANESE	Study-wide	16760	C=0.29809	T=0.70191
1000Genomes_30x	Global	Study-wide	6404	C=0.4600	T=0.5400
1000Genomes_30x	African	Sub	1786	C=0.4138	T=0.5862
1000Genomes_30x	Europe	Sub	1266	C=0.5972	T=0.4028
1000Genomes_30x	South Asian	Sub	1202	C=0.4734	T=0.5266
1000Genomes_30x	East Asian	Sub	1170	C=0.2932	T=0.7068
1000Genomes_30x	American	Sub	980	C=0.550	T=0.450
1000Genomes	Global	Study-wide	5008	C=0.4571	T=0.5429
1000Genomes	African	Sub	1322	C=0.4145	T=0.5855
1000Genomes	East Asian	Sub	1008	C=0.2847	T=0.7153
1000Genomes	Europe	Sub	1006	C=0.6034	T=0.3966
1000Genomes	South Asian	Sub	978	C=0.476	T=0.524
1000Genomes	American	Sub	694	C=0.549	T=0.451
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5884	T=0.4116
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5820	T=0.4180
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5844	T=0.4156
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3341	T=0.6659
HapMap	Global	Study-wide	1882	C=0.4511	T=0.5489
HapMap	American	Sub	766	C=0.460	T=0.540
HapMap	African	Sub	688	C=0.475	T=0.525
HapMap	Asian	Sub	252	C=0.274	T=0.726
HapMap	Europe	Sub	176	C=0.574	T=0.426
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3308	T=0.6692
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.5159	T=0.4841
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.527	T=0.473
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.472	T=0.528
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.533	T=0.467
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.491	T=0.509
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.46	T=0.54
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.67	T=0.33
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.585	T=0.415
Chileans	Chilean	Study-wide	626	C=0.684	T=0.316
Northern Sweden	ACPOP	Study-wide	600	C=0.547	T=0.453
SGDP_PRJ	Global	Study-wide	430	C=0.260	T=0.740
Qatari	Global	Study-wide	216	C=0.644	T=0.356
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.262	T=0.738
Siberian	Global	Study-wide	42	C=0.45	T=0.55
The Danish reference pan genome	Danish	Study-wide	40	C=0.78	T=0.23
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	18	C=0.56	T=0.44

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.44986021C>T
GRCh37.p13 chr 6	NC_000006.11:g.44953758C>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.48+17632… NM_001261823.2:c.48+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 4	NM_001350324.2:c.504+1763… NM_001350324.2:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 5	NM_001350325.2:c.498+1763… NM_001350325.2:c.498+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 6	NM_001350326.2:c.441+1763… NM_001350326.2:c.441+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 7	NM_001350327.2:c.246+1763… NM_001350327.2:c.246+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 8	NM_001350329.2:c.504+1763… NM_001350329.2:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 1	NM_003599.4:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant 2	NM_181356.3:c.537+17632G>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.537+1763… XM_011514949.4:c.537+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X3	XM_011514952.3:c.504+1763… XM_011514952.3:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X4	XM_011514953.4:c.504+1763… XM_011514953.4:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X5	XM_011514954.4:c.504+1763… XM_011514954.4:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X17	XM_017011370.2:c.537+1763… XM_017011370.2:c.537+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X10	XM_017011371.2:c.504+1763… XM_017011371.2:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X14	XM_017011374.3:c.246+1763… XM_017011374.3:c.246+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X7	XM_024446572.2:c.504+1763… XM_024446572.2:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X8	XM_047419416.1:c.504+1763… XM_047419416.1:c.504+17632G>A	N/A	Intron Variant
SUPT3H transcript variant X11	XM_047419417.1:c.537+1763… XM_047419417.1:c.537+17632G>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.44986021=	NC_000006.12:g.44986021C>T
GRCh37.p13 chr 6	NC_000006.11:g.44953758=	NC_000006.11:g.44953758C>T
SUPT3H transcript variant 3	NM_001261823.1:c.48+17632=	NM_001261823.1:c.48+17632G>A
SUPT3H transcript variant 3	NM_001261823.2:c.48+17632=	NM_001261823.2:c.48+17632G>A
SUPT3H transcript variant 4	NM_001350324.2:c.504+17632=	NM_001350324.2:c.504+17632G>A
SUPT3H transcript variant 5	NM_001350325.2:c.498+17632=	NM_001350325.2:c.498+17632G>A
SUPT3H transcript variant 6	NM_001350326.2:c.441+17632=	NM_001350326.2:c.441+17632G>A
SUPT3H transcript variant 7	NM_001350327.2:c.246+17632=	NM_001350327.2:c.246+17632G>A
SUPT3H transcript variant 8	NM_001350329.2:c.504+17632=	NM_001350329.2:c.504+17632G>A
SUPT3H transcript variant 1	NM_003599.3:c.504+17632=	NM_003599.3:c.504+17632G>A
SUPT3H transcript variant 1	NM_003599.4:c.504+17632=	NM_003599.4:c.504+17632G>A
SUPT3H transcript variant 2	NM_181356.2:c.537+17632=	NM_181356.2:c.537+17632G>A
SUPT3H transcript variant 2	NM_181356.3:c.537+17632=	NM_181356.3:c.537+17632G>A
SUPT3H transcript variant X1	XM_005249450.1:c.504+17632=	XM_005249450.1:c.504+17632G>A
SUPT3H transcript variant X2	XM_005249451.1:c.504+17632=	XM_005249451.1:c.504+17632G>A
SUPT3H transcript variant X3	XM_005249452.1:c.504+17632=	XM_005249452.1:c.504+17632G>A
SUPT3H transcript variant X2	XM_011514949.4:c.537+17632=	XM_011514949.4:c.537+17632G>A
SUPT3H transcript variant X3	XM_011514952.3:c.504+17632=	XM_011514952.3:c.504+17632G>A
SUPT3H transcript variant X4	XM_011514953.4:c.504+17632=	XM_011514953.4:c.504+17632G>A
SUPT3H transcript variant X5	XM_011514954.4:c.504+17632=	XM_011514954.4:c.504+17632G>A
SUPT3H transcript variant X17	XM_017011370.2:c.537+17632=	XM_017011370.2:c.537+17632G>A
SUPT3H transcript variant X10	XM_017011371.2:c.504+17632=	XM_017011371.2:c.504+17632G>A
SUPT3H transcript variant X14	XM_017011374.3:c.246+17632=	XM_017011374.3:c.246+17632G>A
SUPT3H transcript variant X7	XM_024446572.2:c.504+17632=	XM_024446572.2:c.504+17632G>A
SUPT3H transcript variant X8	XM_047419416.1:c.504+17632=	XM_047419416.1:c.504+17632G>A
SUPT3H transcript variant X11	XM_047419417.1:c.537+17632=	XM_047419417.1:c.537+17632G>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#.

78 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2101327	Oct 23, 2000 (88)
2	SC_SNP	ss12897743	Dec 05, 2003 (119)
3	ABI	ss44684803	Mar 15, 2006 (126)
4	AFFY	ss65964999	Nov 30, 2006 (127)
5	AFFY	ss66103736	Nov 30, 2006 (127)
6	AFFY	ss76074552	Dec 06, 2007 (129)
7	KRIBB_YJKIM	ss81460252	Dec 16, 2007 (130)
8	BCMHGSC_JDW	ss93452355	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss98495344	Feb 06, 2009 (130)
10	1000GENOMES	ss110044284	Jan 24, 2009 (130)
11	1000GENOMES	ss114300652	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss116446749	Feb 14, 2009 (130)
13	ENSEMBL	ss139403200	Dec 01, 2009 (131)
14	ENSEMBL	ss143878390	Dec 01, 2009 (131)
15	GMI	ss156876932	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss163463380	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss166600156	Jul 04, 2010 (132)
18	AFFY	ss172411117	Jul 04, 2010 (132)
19	BUSHMAN	ss201765925	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss207364147	Jul 04, 2010 (132)
21	1000GENOMES	ss222368721	Jul 14, 2010 (132)
22	1000GENOMES	ss233454495	Jul 14, 2010 (132)
23	1000GENOMES	ss240515134	Jul 15, 2010 (132)
24	BL	ss254290070	May 09, 2011 (134)
25	GMI	ss278778601	May 04, 2012 (137)
26	PJP	ss293589244	May 09, 2011 (134)
27	TISHKOFF	ss559179134	Apr 25, 2013 (138)
28	SSMP	ss653118807	Apr 25, 2013 (138)
29	EVA-GONL	ss982885537	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1073581522	Aug 21, 2014 (142)
31	1000GENOMES	ss1319953256	Aug 21, 2014 (142)
32	HAMMER_LAB	ss1397455170	Sep 08, 2015 (146)
33	DDI	ss1430708313	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1581654774	Apr 01, 2015 (144)
35	EVA_DECODE	ss1592421699	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1615487329	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1658481362	Apr 01, 2015 (144)
38	EVA_SVP	ss1712860492	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1804409512	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1926141896	Feb 12, 2016 (147)
41	GENOMED	ss1970386633	Jul 19, 2016 (147)
42	JJLAB	ss2023710746	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2151889438	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2283717259	Dec 20, 2016 (150)
45	SYSTEMSBIOZJU	ss2626342441	Nov 08, 2017 (151)
46	GRF	ss2707488422	Nov 08, 2017 (151)
47	GNOMAD	ss2838500227	Nov 08, 2017 (151)
48	AFFY	ss2986000459	Nov 08, 2017 (151)
49	SWEGEN	ss2998994234	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3025646411	Nov 08, 2017 (151)
51	CSHL	ss3346942450	Nov 08, 2017 (151)
52	URBANLAB	ss3648341774	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3666886158	Jul 13, 2019 (153)
54	EVA_DECODE	ss3717125775	Jul 13, 2019 (153)
55	ACPOP	ss3733466705	Jul 13, 2019 (153)
56	EVA	ss3764969140	Jul 13, 2019 (153)
57	PACBIO	ss3785462050	Jul 13, 2019 (153)
58	PACBIO	ss3790814735	Jul 13, 2019 (153)
59	PACBIO	ss3795693391	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3808115570	Jul 13, 2019 (153)
61	EVA	ss3829901551	Apr 26, 2020 (154)
62	SGDP_PRJ	ss3864490600	Apr 26, 2020 (154)
63	KRGDB	ss3911297551	Apr 26, 2020 (154)
64	KOGIC	ss3958950758	Apr 26, 2020 (154)
65	EVA	ss3985221587	Apr 26, 2021 (155)
66	TOPMED	ss4701447329	Apr 26, 2021 (155)
67	TOMMO_GENOMICS	ss5177309109	Apr 26, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5268291367	Oct 17, 2022 (156)
69	HUGCELL_USP	ss5465979527	Oct 17, 2022 (156)
70	EVA	ss5508473628	Oct 17, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5554107160	Oct 17, 2022 (156)
72	SANFORD_IMAGENETICS	ss5640312859	Oct 17, 2022 (156)
73	TOMMO_GENOMICS	ss5715300170	Oct 17, 2022 (156)
74	YY_MCH	ss5807430217	Oct 17, 2022 (156)
75	EVA	ss5842182977	Oct 17, 2022 (156)
76	EVA	ss5855340228	Oct 17, 2022 (156)
77	EVA	ss5883639278	Oct 17, 2022 (156)
78	EVA	ss5968809993	Oct 17, 2022 (156)
79	1000Genomes	NC_000006.11 - 44953758	Oct 12, 2018 (152)
80	1000Genomes_30x	NC_000006.12 - 44986021	Oct 17, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 44953758	Oct 12, 2018 (152)
82	Chileans	NC_000006.11 - 44953758	Apr 26, 2020 (154)
83	Genome-wide autozygosity in Daghestan	NC_000006.10 - 45061736	Apr 26, 2020 (154)
84	Genetic variation in the Estonian population	NC_000006.11 - 44953758	Oct 12, 2018 (152)
85	The Danish reference pan genome	NC_000006.11 - 44953758	Apr 26, 2020 (154)
86	gnomAD - Genomes	NC_000006.12 - 44986021	Apr 26, 2021 (155)
87	Genome of the Netherlands Release 5	NC_000006.11 - 44953758	Apr 26, 2020 (154)
88	HapMap	NC_000006.12 - 44986021	Apr 26, 2020 (154)
89	KOREAN population from KRGDB	NC_000006.11 - 44953758	Apr 26, 2020 (154)
90	Korean Genome Project	NC_000006.12 - 44986021	Apr 26, 2020 (154)
91	Northern Sweden	NC_000006.11 - 44953758	Jul 13, 2019 (153)
92	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 44953758	Apr 26, 2021 (155)
93	Qatari	NC_000006.11 - 44953758	Apr 26, 2020 (154)
94	SGDP_PRJ	NC_000006.11 - 44953758	Apr 26, 2020 (154)
95	Siberian	NC_000006.11 - 44953758	Apr 26, 2020 (154)
96	8.3KJPN	NC_000006.11 - 44953758	Apr 26, 2021 (155)
97	14KJPN	NC_000006.12 - 44986021	Oct 17, 2022 (156)
98	TopMed	NC_000006.12 - 44986021	Apr 26, 2021 (155)
99	UK 10K study - Twins	NC_000006.11 - 44953758	Oct 12, 2018 (152)
100	A Vietnamese Genetic Variation Database	NC_000006.11 - 44953758	Jul 13, 2019 (153)
101	ALFA	NC_000006.12 - 44986021	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)
rs61612863	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
429798, ss66103736, ss76074552, ss93452355, ss110044284, ss114300652, ss116446749, ss163463380, ss166600156, ss172411117, ss201765925, ss207364147, ss254290070, ss278778601, ss293589244, ss1397455170, ss1592421699, ss1712860492	NC_000006.10:45061735:C:T	NC_000006.12:44986020:C:T	(self)
31735747, 17699290, 377109, 12624406, 7819713, 7876127, 18474945, 6751570, 447514, 8183826, 16507580, 4405792, 35278416, 17699290, 3928443, ss222368721, ss233454495, ss240515134, ss559179134, ss653118807, ss982885537, ss1073581522, ss1319953256, ss1430708313, ss1581654774, ss1615487329, ss1658481362, ss1804409512, ss1926141896, ss1970386633, ss2023710746, ss2151889438, ss2626342441, ss2707488422, ss2838500227, ss2986000459, ss2998994234, ss3346942450, ss3666886158, ss3733466705, ss3764969140, ss3785462050, ss3790814735, ss3795693391, ss3829901551, ss3864490600, ss3911297551, ss3985221587, ss5177309109, ss5508473628, ss5640312859, ss5842182977, ss5968809993	NC_000006.11:44953757:C:T	NC_000006.12:44986020:C:T	(self)
41633095, 223912303, 3122654, 15328759, 49137274, 538824887, 1310940923, ss2283717259, ss3025646411, ss3648341774, ss3717125775, ss3808115570, ss3958950758, ss4701447329, ss5268291367, ss5465979527, ss5554107160, ss5715300170, ss5807430217, ss5855340228, ss5883639278	NC_000006.12:44986020:C:T	NC_000006.12:44986020:C:T	(self)
ss12897743	NT_007592.13:35750884:C:T	NC_000006.12:44986020:C:T	(self)
ss2101327, ss44684803, ss65964999, ss81460252, ss98495344, ss139403200, ss143878390, ss156876932	NT_007592.15:44893757:C:T	NC_000006.12:44986020: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 rs1329716

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

rs1329716