Name: rs1003719
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.

rs1003719

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:37118795 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.475866 (125957/264690, TOPMED)
A=0.457213 (107723/235608, ALFA)
G=0.480450 (67190/139848, GnomAD) (+ 23 more)
G=0.40191 (31621/78676, PAGE_STUDY)
G=0.42501 (12010/28258, 14KJPN)
G=0.42942 (7197/16760, 8.3KJPN)
G=0.4210 (2696/6404, 1000G_30x)
G=0.4233 (2120/5008, 1000G)
A=0.4920 (2204/4480, Estonian)
A=0.4453 (1716/3854, ALSPAC)
A=0.4366 (1619/3708, TWINSUK)
G=0.3887 (1139/2930, KOREAN)
G=0.4597 (958/2084, HGDP_Stanford)
G=0.4281 (804/1878, HapMap)
G=0.4099 (751/1832, Korea1K)
A=0.4233 (480/1134, Daghestan)
A=0.421 (420/998, GoNL)
G=0.411 (325/790, PRJEB37584)
A=0.448 (269/600, NorthernSweden)
A=0.329 (129/392, SGDP_PRJ)
A=0.477 (103/216, Qatari)
G=0.431 (93/216, Vietnamese)
G=0.47 (36/76, Ancient Sardinia)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
A=0.32 (12/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TTC3 : Intron 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	235822	A=0.457150	G=0.542850, T=0.000000
European	Sub	201690	A=0.438648	G=0.561352, T=0.000000
African	Sub	8410	A=0.6421	G=0.3579, T=0.0000
African Others	Sub	308	A=0.695	G=0.305, T=0.000
African American	Sub	8102	A=0.6401	G=0.3599, T=0.0000
Asian	Sub	6384	A=0.6128	G=0.3872, T=0.0000
East Asian	Sub	4550	A=0.6092	G=0.3908, T=0.0000
Other Asian	Sub	1834	A=0.6216	G=0.3784, T=0.0000
Latin American 1	Sub	564	A=0.495	G=0.505, T=0.000
Latin American 2	Sub	1656	A=0.5725	G=0.4275, T=0.0000
South Asian	Sub	5154	A=0.5536	G=0.4464, T=0.0000
Other	Sub	11964	A=0.49674	G=0.50326, T=0.00000

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	A=0.524134	G=0.475866
Allele Frequency Aggregator	Total	Global	235608	A=0.457213	G=0.542787, T=0.000000
Allele Frequency Aggregator	European	Sub	201512	A=0.438693	G=0.561307, T=0.000000
Allele Frequency Aggregator	Other	Sub	11942	A=0.49682	G=0.50318, T=0.00000
Allele Frequency Aggregator	African	Sub	8396	A=0.6427	G=0.3573, T=0.0000
Allele Frequency Aggregator	Asian	Sub	6384	A=0.6128	G=0.3872, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5154	A=0.5536	G=0.4464, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	1656	A=0.5725	G=0.4275, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	564	A=0.495	G=0.505, T=0.000
gnomAD - Genomes	Global	Study-wide	139848	A=0.519550	G=0.480450
gnomAD - Genomes	European	Sub	75752	A=0.45046	G=0.54954
gnomAD - Genomes	African	Sub	41878	A=0.63776	G=0.36224
gnomAD - Genomes	American	Sub	13630	A=0.55745	G=0.44255
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.3855	G=0.6145
gnomAD - Genomes	East Asian	Sub	3120	A=0.5862	G=0.4138
gnomAD - Genomes	Other	Sub	2148	A=0.5214	G=0.4786
The PAGE Study	Global	Study-wide	78676	A=0.59809	G=0.40191
The PAGE Study	AfricanAmerican	Sub	32506	A=0.63847	G=0.36153
The PAGE Study	Mexican	Sub	10804	A=0.57849	G=0.42151
The PAGE Study	Asian	Sub	8312	A=0.5741	G=0.4259
The PAGE Study	PuertoRican	Sub	7918	A=0.5294	G=0.4706
The PAGE Study	NativeHawaiian	Sub	4534	A=0.6619	G=0.3381
The PAGE Study	Cuban	Sub	4228	A=0.4858	G=0.5142
The PAGE Study	Dominican	Sub	3828	A=0.5577	G=0.4423
The PAGE Study	CentralAmerican	Sub	2448	A=0.6127	G=0.3873
The PAGE Study	SouthAmerican	Sub	1982	A=0.6342	G=0.3658
The PAGE Study	NativeAmerican	Sub	1260	A=0.5262	G=0.4738
The PAGE Study	SouthAsian	Sub	856	A=0.557	G=0.443
14KJPN	JAPANESE	Study-wide	28258	A=0.57499	G=0.42501
8.3KJPN	JAPANESE	Study-wide	16760	A=0.57058	G=0.42942
1000Genomes_30x	Global	Study-wide	6404	A=0.5790	G=0.4210
1000Genomes_30x	African	Sub	1786	A=0.6461	G=0.3539
1000Genomes_30x	Europe	Sub	1266	A=0.4155	G=0.5845
1000Genomes_30x	South Asian	Sub	1202	A=0.6007	G=0.3993
1000Genomes_30x	East Asian	Sub	1170	A=0.6256	G=0.3744
1000Genomes_30x	American	Sub	980	A=0.586	G=0.414
1000Genomes	Global	Study-wide	5008	A=0.5767	G=0.4233
1000Genomes	African	Sub	1322	A=0.6422	G=0.3578
1000Genomes	East Asian	Sub	1008	A=0.6210	G=0.3790
1000Genomes	Europe	Sub	1006	A=0.4205	G=0.5795
1000Genomes	South Asian	Sub	978	A=0.595	G=0.405
1000Genomes	American	Sub	694	A=0.588	G=0.412
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4920	G=0.5080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4453	G=0.5547
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4366	G=0.5634
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6113	C=0.0000, G=0.3887, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.5403	G=0.4597
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.583	G=0.417
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.495	G=0.505
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.471	G=0.529
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.438	G=0.562
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.579	G=0.421
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.671	G=0.329
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.79	G=0.21
HapMap	Global	Study-wide	1878	A=0.5719	G=0.4281
HapMap	American	Sub	762	A=0.524	G=0.476
HapMap	African	Sub	692	A=0.646	G=0.354
HapMap	Asian	Sub	250	A=0.624	G=0.376
HapMap	Europe	Sub	174	A=0.414	G=0.586
Korean Genome Project	KOREAN	Study-wide	1832	A=0.5901	G=0.4099
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	A=0.4233	G=0.5767
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.400	G=0.600
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.438	G=0.562
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.393	G=0.607
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.426	G=0.574
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	A=0.61	G=0.39
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.36	G=0.64
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.421	G=0.579
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.589	G=0.411
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.589	G=0.411
Northern Sweden	ACPOP	Study-wide	600	A=0.448	G=0.552
SGDP_PRJ	Global	Study-wide	392	A=0.329	G=0.671
Qatari	Global	Study-wide	216	A=0.477	G=0.523
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.569	G=0.431
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	A=0.53	G=0.47
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	G=0.50
Siberian	Global	Study-wide	38	A=0.32	G=0.68

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 21	NC_000021.9:g.37118795A>C
GRCh38.p14 chr 21	NC_000021.9:g.37118795A>G
GRCh38.p14 chr 21	NC_000021.9:g.37118795A>T
GRCh37.p13 chr 21	NC_000021.8:g.38491095A>C
GRCh37.p13 chr 21	NC_000021.8:g.38491095A>G
GRCh37.p13 chr 21	NC_000021.8:g.38491095A>T

Gene: TTC3, tetratricopeptide repeat domain 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TTC3 transcript variant 2	NM_001001894.3:c.901-3022… NM_001001894.3:c.901-3022A>C	N/A	Intron Variant
TTC3 transcript variant 3	NM_001320703.2:c.967-3022… NM_001320703.2:c.967-3022A>C	N/A	Intron Variant
TTC3 transcript variant 4	NM_001320704.2:c.901-3022… NM_001320704.2:c.901-3022A>C	N/A	Intron Variant
TTC3 transcript variant 5	NM_001330681.2:c.-30-3022… NM_001330681.2:c.-30-3022A>C	N/A	Intron Variant
TTC3 transcript variant 6	NM_001330682.2:c.-30-3022… NM_001330682.2:c.-30-3022A>C	N/A	Intron Variant
TTC3 transcript variant 7	NM_001330683.2:c.901-3022… NM_001330683.2:c.901-3022A>C	N/A	Intron Variant
TTC3 transcript variant 8	NM_001353936.2:c.-30-3022… NM_001353936.2:c.-30-3022A>C	N/A	Intron Variant
TTC3 transcript variant 9	NM_001353937.2:c.-1201-30… NM_001353937.2:c.-1201-3022A>C	N/A	Intron Variant
TTC3 transcript variant 10	NM_001353938.2:c.-1201-30… NM_001353938.2:c.-1201-3022A>C	N/A	Intron Variant
TTC3 transcript variant 1	NM_003316.4:c.901-3022A>C	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	A=	C	G	T
GRCh38.p14 chr 21	NC_000021.9:g.37118795=	NC_000021.9:g.37118795A>C	NC_000021.9:g.37118795A>G	NC_000021.9:g.37118795A>T
GRCh37.p13 chr 21	NC_000021.8:g.38491095=	NC_000021.8:g.38491095A>C	NC_000021.8:g.38491095A>G	NC_000021.8:g.38491095A>T
TTC3 transcript variant 2	NM_001001894.1:c.901-3022=	NM_001001894.1:c.901-3022A>C	NM_001001894.1:c.901-3022A>G	NM_001001894.1:c.901-3022A>T
TTC3 transcript variant 2	NM_001001894.3:c.901-3022=	NM_001001894.3:c.901-3022A>C	NM_001001894.3:c.901-3022A>G	NM_001001894.3:c.901-3022A>T
TTC3 transcript variant 3	NM_001320703.2:c.967-3022=	NM_001320703.2:c.967-3022A>C	NM_001320703.2:c.967-3022A>G	NM_001320703.2:c.967-3022A>T
TTC3 transcript variant 4	NM_001320704.2:c.901-3022=	NM_001320704.2:c.901-3022A>C	NM_001320704.2:c.901-3022A>G	NM_001320704.2:c.901-3022A>T
TTC3 transcript variant 5	NM_001330681.2:c.-30-3022=	NM_001330681.2:c.-30-3022A>C	NM_001330681.2:c.-30-3022A>G	NM_001330681.2:c.-30-3022A>T
TTC3 transcript variant 6	NM_001330682.2:c.-30-3022=	NM_001330682.2:c.-30-3022A>C	NM_001330682.2:c.-30-3022A>G	NM_001330682.2:c.-30-3022A>T
TTC3 transcript variant 7	NM_001330683.2:c.901-3022=	NM_001330683.2:c.901-3022A>C	NM_001330683.2:c.901-3022A>G	NM_001330683.2:c.901-3022A>T
TTC3 transcript variant 8	NM_001353936.2:c.-30-3022=	NM_001353936.2:c.-30-3022A>C	NM_001353936.2:c.-30-3022A>G	NM_001353936.2:c.-30-3022A>T
TTC3 transcript variant 9	NM_001353937.2:c.-1201-3022=	NM_001353937.2:c.-1201-3022A>C	NM_001353937.2:c.-1201-3022A>G	NM_001353937.2:c.-1201-3022A>T
TTC3 transcript variant 10	NM_001353938.2:c.-1201-3022=	NM_001353938.2:c.-1201-3022A>C	NM_001353938.2:c.-1201-3022A>G	NM_001353938.2:c.-1201-3022A>T
TTC3 transcript variant 1	NM_003316.3:c.901-3022=	NM_003316.3:c.901-3022A>C	NM_003316.3:c.901-3022A>G	NM_003316.3:c.901-3022A>T
TTC3 transcript variant 1	NM_003316.4:c.901-3022=	NM_003316.4:c.901-3022A>C	NM_003316.4:c.901-3022A>G	NM_003316.4:c.901-3022A>T
TTC3 transcript variant X1	XM_005261045.1:c.1015-3022=	XM_005261045.1:c.1015-3022A>C	XM_005261045.1:c.1015-3022A>G	XM_005261045.1:c.1015-3022A>T
TTC3 transcript variant X2	XM_005261046.1:c.967-3022=	XM_005261046.1:c.967-3022A>C	XM_005261046.1:c.967-3022A>G	XM_005261046.1:c.967-3022A>T
TTC3 transcript variant X3	XM_005261047.1:c.1015-3022=	XM_005261047.1:c.1015-3022A>C	XM_005261047.1:c.1015-3022A>G	XM_005261047.1:c.1015-3022A>T
TTC3 transcript variant X3	XM_005261048.1:c.949-3022=	XM_005261048.1:c.949-3022A>C	XM_005261048.1:c.949-3022A>G	XM_005261048.1:c.949-3022A>T
TTC3 transcript variant X5	XM_005261049.1:c.949-3022=	XM_005261049.1:c.949-3022A>C	XM_005261049.1:c.949-3022A>G	XM_005261049.1:c.949-3022A>T
TTC3 transcript variant X6	XM_005261050.1:c.949-3022=	XM_005261050.1:c.949-3022A>C	XM_005261050.1:c.949-3022A>G	XM_005261050.1:c.949-3022A>T
TTC3 transcript variant X7	XM_005261051.1:c.967-3022=	XM_005261051.1:c.967-3022A>C	XM_005261051.1:c.967-3022A>G	XM_005261051.1:c.967-3022A>T
TTC3 transcript variant X8	XM_005261052.1:c.901-3022=	XM_005261052.1:c.901-3022A>C	XM_005261052.1:c.901-3022A>G	XM_005261052.1:c.901-3022A>T
TTC3 transcript variant X5	XM_005261053.1:c.901-3022=	XM_005261053.1:c.901-3022A>C	XM_005261053.1:c.901-3022A>G	XM_005261053.1:c.901-3022A>T
TTC3 transcript variant X10	XM_005261054.1:c.901-3022=	XM_005261054.1:c.901-3022A>C	XM_005261054.1:c.901-3022A>G	XM_005261054.1:c.901-3022A>T
TTC3 transcript variant X17	XM_005261055.1:c.-30-3022=	XM_005261055.1:c.-30-3022A>C	XM_005261055.1:c.-30-3022A>G	XM_005261055.1:c.-30-3022A>T
TTC3 transcript variant X11	XM_005261056.1:c.-30-3022=	XM_005261056.1:c.-30-3022A>C	XM_005261056.1:c.-30-3022A>G	XM_005261056.1:c.-30-3022A>T
TTC3 transcript variant X14	XM_005261058.1:c.1015-3022=	XM_005261058.1:c.1015-3022A>C	XM_005261058.1:c.1015-3022A>G	XM_005261058.1:c.1015-3022A>T

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#.

140 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1465044	Oct 05, 2000 (86)
2	PERLEGEN	ss4015308	Sep 28, 2001 (100)
3	BCM_SSAHASNP	ss10987156	Jul 11, 2003 (116)
4	WI_SSAHASNP	ss12512302	Jul 11, 2003 (116)
5	WUGSC_SSAHASNP	ss14443351	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss20135853	Feb 27, 2004 (120)
7	SSAHASNP	ss21815028	Apr 05, 2004 (121)
8	ILLUMINA	ss66631601	Dec 01, 2006 (127)
9	ILLUMINA	ss66865708	Dec 01, 2006 (127)
10	ILLUMINA	ss66936958	Dec 01, 2006 (127)
11	ILLUMINA	ss70356865	May 17, 2007 (127)
12	ILLUMINA	ss70461101	May 25, 2008 (130)
13	ILLUMINA	ss70981865	May 17, 2007 (127)
14	ILLUMINA	ss75546539	Dec 07, 2007 (129)
15	HGSV	ss77426912	Dec 07, 2007 (129)
16	KRIBB_YJKIM	ss83652122	Dec 15, 2007 (130)
17	BCMHGSC_JDW	ss91835755	Mar 24, 2008 (129)
18	1000GENOMES	ss112464800	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss117521998	Feb 14, 2009 (130)
20	ILLUMINA	ss121255556	Dec 01, 2009 (131)
21	ENSEMBL	ss135606835	Dec 01, 2009 (131)
22	ENSEMBL	ss138315442	Dec 01, 2009 (131)
23	ILLUMINA	ss152548858	Dec 01, 2009 (131)
24	GMI	ss156895396	Dec 01, 2009 (131)
25	ILLUMINA	ss159105056	Dec 01, 2009 (131)
26	ILLUMINA	ss169223571	Jul 04, 2010 (132)
27	ILLUMINA	ss169551353	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss208778605	Jul 04, 2010 (132)
29	1000GENOMES	ss228560471	Jul 14, 2010 (132)
30	1000GENOMES	ss237979285	Jul 15, 2010 (132)
31	1000GENOMES	ss244118395	Jul 15, 2010 (132)
32	BL	ss255948924	May 09, 2011 (134)
33	GMI	ss283538930	May 04, 2012 (137)
34	GMI	ss287529817	Apr 25, 2013 (138)
35	PJP	ss292709251	May 09, 2011 (134)
36	ILLUMINA	ss480020165	May 04, 2012 (137)
37	ILLUMINA	ss484268142	May 04, 2012 (137)
38	EXOME_CHIP	ss491565677	May 04, 2012 (137)
39	ILLUMINA	ss536568224	Sep 08, 2015 (146)
40	TISHKOFF	ss566491837	Apr 25, 2013 (138)
41	SSMP	ss662401834	Apr 25, 2013 (138)
42	ILLUMINA	ss778686051	Aug 21, 2014 (142)
43	ILLUMINA	ss779695554	Aug 21, 2014 (142)
44	ILLUMINA	ss780680259	Aug 21, 2014 (142)
45	ILLUMINA	ss781126793	Aug 21, 2014 (142)
46	ILLUMINA	ss783353533	Aug 21, 2014 (142)
47	ILLUMINA	ss825326596	Jul 19, 2016 (147)
48	ILLUMINA	ss832617848	Aug 21, 2014 (142)
49	ILLUMINA	ss833208537	Aug 21, 2014 (142)
50	ILLUMINA	ss834144707	Aug 21, 2014 (142)
51	ILLUMINA	ss835169552	Aug 21, 2014 (142)
52	EVA-GONL	ss995112932	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1082495146	Aug 21, 2014 (142)
54	1000GENOMES	ss1366271227	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397780036	Sep 08, 2015 (146)
56	DDI	ss1429182514	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1579660598	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1639551376	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1682545409	Apr 01, 2015 (144)
60	EVA_DECODE	ss1699183133	Apr 01, 2015 (144)
61	EVA_SVP	ss1713722781	Apr 01, 2015 (144)
62	ILLUMINA	ss1752407620	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1809683671	Sep 08, 2015 (146)
64	ILLUMINA	ss1917951340	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1938663297	Feb 12, 2016 (147)
66	ILLUMINA	ss1946565797	Feb 12, 2016 (147)
67	ILLUMINA	ss1959952656	Feb 12, 2016 (147)
68	GENOMED	ss1969223579	Jul 19, 2016 (147)
69	JJLAB	ss2030103396	Sep 14, 2016 (149)
70	USC_VALOUEV	ss2158708147	Dec 20, 2016 (150)
71	HUMAN_LONGEVITY	ss2245738863	Dec 20, 2016 (150)
72	SYSTEMSBIOZJU	ss2629550486	Nov 08, 2017 (151)
73	ILLUMINA	ss2633847819	Nov 08, 2017 (151)
74	ILLUMINA	ss2633847820	Nov 08, 2017 (151)
75	ILLUMINA	ss2633847821	Nov 08, 2017 (151)
76	ILLUMINA	ss2633847822	Nov 08, 2017 (151)
77	ILLUMINA	ss2635109633	Nov 08, 2017 (151)
78	GRF	ss2704438280	Nov 08, 2017 (151)
79	GNOMAD	ss2971751264	Nov 08, 2017 (151)
80	AFFY	ss2985228204	Nov 08, 2017 (151)
81	AFFY	ss2985845484	Nov 08, 2017 (151)
82	SWEGEN	ss3018884590	Nov 08, 2017 (151)
83	ILLUMINA	ss3022158702	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3028890400	Nov 08, 2017 (151)
85	CSHL	ss3352716202	Nov 08, 2017 (151)
86	ILLUMINA	ss3628479347	Oct 12, 2018 (152)
87	ILLUMINA	ss3628479348	Oct 12, 2018 (152)
88	ILLUMINA	ss3631801465	Oct 12, 2018 (152)
89	ILLUMINA	ss3631801466	Oct 12, 2018 (152)
90	ILLUMINA	ss3634854494	Oct 12, 2018 (152)
91	ILLUMINA	ss3638367670	Oct 12, 2018 (152)
92	ILLUMINA	ss3639187561	Oct 12, 2018 (152)
93	ILLUMINA	ss3639609382	Oct 12, 2018 (152)
94	ILLUMINA	ss3640561794	Oct 12, 2018 (152)
95	ILLUMINA	ss3641134080	Oct 12, 2018 (152)
96	ILLUMINA	ss3641430417	Oct 12, 2018 (152)
97	ILLUMINA	ss3642204084	Oct 12, 2018 (152)
98	ILLUMINA	ss3643328620	Oct 12, 2018 (152)
99	ILLUMINA	ss3644792473	Oct 12, 2018 (152)
100	URBANLAB	ss3651113863	Oct 12, 2018 (152)
101	ILLUMINA	ss3652618227	Oct 12, 2018 (152)
102	ILLUMINA	ss3653996429	Oct 12, 2018 (152)
103	EGCUT_WGS	ss3685461264	Jul 13, 2019 (153)
104	EVA_DECODE	ss3707721887	Jul 13, 2019 (153)
105	ILLUMINA	ss3725947336	Jul 13, 2019 (153)
106	ACPOP	ss3743727699	Jul 13, 2019 (153)
107	ILLUMINA	ss3744498314	Jul 13, 2019 (153)
108	ILLUMINA	ss3745154353	Jul 13, 2019 (153)
109	EVA	ss3759101569	Jul 13, 2019 (153)
110	PAGE_CC	ss3772073429	Jul 13, 2019 (153)
111	ILLUMINA	ss3772650410	Jul 13, 2019 (153)
112	KHV_HUMAN_GENOMES	ss3822268364	Jul 13, 2019 (153)
113	EVA	ss3835871192	Apr 27, 2020 (154)
114	EVA	ss3841562574	Apr 27, 2020 (154)
115	EVA	ss3847075994	Apr 27, 2020 (154)
116	HGDP	ss3847680722	Apr 27, 2020 (154)
117	SGDP_PRJ	ss3889992688	Apr 27, 2020 (154)
118	KRGDB	ss3940352537	Apr 27, 2020 (154)
119	KOGIC	ss3983087226	Apr 27, 2020 (154)
120	EVA	ss3984756241	Apr 27, 2021 (155)
121	EVA	ss3985903161	Apr 27, 2021 (155)
122	TOPMED	ss5101480483	Apr 27, 2021 (155)
123	TOMMO_GENOMICS	ss5231513206	Apr 27, 2021 (155)
124	EVA	ss5237612740	Apr 27, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5310204409	Oct 17, 2022 (156)
126	EVA	ss5316037509	Oct 17, 2022 (156)
127	EVA	ss5439862055	Oct 17, 2022 (156)
128	HUGCELL_USP	ss5502252165	Oct 17, 2022 (156)
129	EVA	ss5512322350	Oct 17, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5617340247	Oct 17, 2022 (156)
131	SANFORD_IMAGENETICS	ss5624496267	Oct 17, 2022 (156)
132	SANFORD_IMAGENETICS	ss5664005904	Oct 17, 2022 (156)
133	TOMMO_GENOMICS	ss5792020397	Oct 17, 2022 (156)
134	YY_MCH	ss5818440119	Oct 17, 2022 (156)
135	EVA	ss5839034769	Oct 17, 2022 (156)
136	EVA	ss5847513502	Oct 17, 2022 (156)
137	EVA	ss5853302907	Oct 17, 2022 (156)
138	EVA	ss5892339465	Oct 17, 2022 (156)
139	EVA	ss5958900958	Oct 17, 2022 (156)
140	EVA	ss5979628923	Oct 17, 2022 (156)
141	1000Genomes	NC_000021.8 - 38491095	Oct 12, 2018 (152)
142	1000Genomes_30x	NC_000021.9 - 37118795	Oct 17, 2022 (156)
143	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 38491095	Oct 12, 2018 (152)
144	Genome-wide autozygosity in Daghestan	NC_000021.7 - 37412965	Apr 27, 2020 (154)
145	Genetic variation in the Estonian population	NC_000021.8 - 38491095	Oct 12, 2018 (152)
146	The Danish reference pan genome	NC_000021.8 - 38491095	Apr 27, 2020 (154)
147	gnomAD - Genomes	NC_000021.9 - 37118795	Apr 27, 2021 (155)
148	Genome of the Netherlands Release 5	NC_000021.8 - 38491095	Apr 27, 2020 (154)
149	HGDP-CEPH-db Supplement 1	NC_000021.7 - 37412965	Apr 27, 2020 (154)
150	HapMap	NC_000021.9 - 37118795	Apr 27, 2020 (154)
151	KOREAN population from KRGDB	NC_000021.8 - 38491095	Apr 27, 2020 (154)
152	Korean Genome Project	NC_000021.9 - 37118795	Apr 27, 2020 (154)
153	Northern Sweden	NC_000021.8 - 38491095	Jul 13, 2019 (153)
154	The PAGE Study	NC_000021.9 - 37118795	Jul 13, 2019 (153)
155	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 38491095	Apr 27, 2021 (155)
156	CNV burdens in cranial meningiomas	NC_000021.8 - 38491095	Apr 27, 2021 (155)
157	Qatari	NC_000021.8 - 38491095	Apr 27, 2020 (154)
158	SGDP_PRJ	NC_000021.8 - 38491095	Apr 27, 2020 (154)
159	Siberian	NC_000021.8 - 38491095	Apr 27, 2020 (154)
160	8.3KJPN	NC_000021.8 - 38491095	Apr 27, 2021 (155)
161	14KJPN	NC_000021.9 - 37118795	Oct 17, 2022 (156)
162	TopMed	NC_000021.9 - 37118795	Apr 27, 2021 (155)
163	UK 10K study - Twins	NC_000021.8 - 38491095	Oct 12, 2018 (152)
164	A Vietnamese Genetic Variation Database	NC_000021.8 - 38491095	Jul 13, 2019 (153)
165	ALFA	NC_000021.9 - 37118795	Apr 27, 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)
rs58922898	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
47529931, ss3940352537	NC_000021.8:38491094:A:C	NC_000021.9:37118794:A:C	(self)
294053, 358614, ss77426912, ss91835755, ss112464800, ss117521998, ss208778605, ss255948924, ss283538930, ss287529817, ss292709251, ss484268142, ss825326596, ss1397780036, ss1699183133, ss1713722781, ss2635109633, ss3639187561, ss3639609382, ss3643328620, ss3847680722	NC_000021.7:37412964:A:G	NC_000021.9:37118794:A:G	(self)
79790283, 44157830, 31199512, 5825537, 19670902, 47529931, 17012564, 1129088, 305820, 20705219, 42009668, 11224501, 89482513, 44157830, 9742944, ss228560471, ss237979285, ss244118395, ss480020165, ss491565677, ss536568224, ss566491837, ss662401834, ss778686051, ss779695554, ss780680259, ss781126793, ss783353533, ss832617848, ss833208537, ss834144707, ss835169552, ss995112932, ss1082495146, ss1366271227, ss1429182514, ss1579660598, ss1639551376, ss1682545409, ss1752407620, ss1809683671, ss1917951340, ss1938663297, ss1946565797, ss1959952656, ss1969223579, ss2030103396, ss2158708147, ss2629550486, ss2633847819, ss2633847820, ss2633847821, ss2633847822, ss2704438280, ss2971751264, ss2985228204, ss2985845484, ss3018884590, ss3022158702, ss3352716202, ss3628479347, ss3628479348, ss3631801465, ss3631801466, ss3634854494, ss3638367670, ss3640561794, ss3641134080, ss3641430417, ss3642204084, ss3644792473, ss3652618227, ss3653996429, ss3685461264, ss3743727699, ss3744498314, ss3745154353, ss3759101569, ss3772650410, ss3835871192, ss3841562574, ss3889992688, ss3940352537, ss3984756241, ss3985903161, ss5231513206, ss5237612740, ss5316037509, ss5439862055, ss5512322350, ss5624496267, ss5664005904, ss5839034769, ss5847513502, ss5958900958, ss5979628923	NC_000021.8:38491094:A:G	NC_000021.9:37118794:A:G	(self)
104866182, 563079410, 2208033, 39465227, 1294898, 125857501, 376589429, 4731474511, ss2245738863, ss3028890400, ss3651113863, ss3707721887, ss3725947336, ss3772073429, ss3822268364, ss3847075994, ss3983087226, ss5101480483, ss5310204409, ss5502252165, ss5617340247, ss5792020397, ss5818440119, ss5853302907, ss5892339465	NC_000021.9:37118794:A:G	NC_000021.9:37118794:A:G	(self)
ss10987156, ss12512302	NT_011512.8:24151489:A:G	NC_000021.9:37118794:A:G	(self)
ss14443351, ss20135853, ss21815028	NT_011512.9:24151490:A:G	NC_000021.9:37118794:A:G	(self)
ss1465044, ss4015308, ss66631601, ss66865708, ss66936958, ss70356865, ss70461101, ss70981865, ss75546539, ss83652122, ss121255556, ss135606835, ss138315442, ss152548858, ss156895396, ss159105056, ss169223571, ss169551353	NT_011512.11:24152965:A:G	NC_000021.9:37118794:A:G	(self)
47529931, ss3940352537	NC_000021.8:38491094:A:T	NC_000021.9:37118794:A:T	(self)
4731474511	NC_000021.9:37118794:A:T	NC_000021.9:37118794:A:T	(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 rs1003719

PMID	Title	Author	Year	Journal
20463881	Digital quantification of human eye color highlights genetic association of three new loci.	Liu F et al.	2010	PLoS genetics

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

rs1003719