Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs61746719

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:44398189 (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=0.022781 (6030/264690, TOPMED)
T=0.024780 (6221/251052, GnomAD_exome)
T=0.023962 (3357/140096, GnomAD) (+ 16 more)
T=0.024158 (2926/121118, ExAC)
T=0.02931 (1445/49308, ALFA)
T=0.02691 (350/13006, GO-ESP)
T=0.0147 (94/6404, 1000G_30x)
T=0.0148 (74/5008, 1000G)
T=0.0134 (60/4480, Estonian)
T=0.0454 (175/3854, ALSPAC)
T=0.0477 (177/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
T=0.020 (20/998, GoNL)
T=0.018 (11/600, NorthernSweden)
T=0.034 (18/534, MGP)
T=0.039 (12/304, FINRISK)
T=0.009 (2/216, Qatari)
C=0.50 (7/14, SGDP_PRJ)
T=0.50 (7/14, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GPATCH8 : Synonymous 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 65628 C=0.97129 T=0.02871
European Sub 47324 C=0.96718 T=0.03282
African Sub 8410 C=0.9889 T=0.0111
African Others Sub 306 C=1.000 T=0.000
African American Sub 8104 C=0.9885 T=0.0115
Asian Sub 168 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 56 C=1.00 T=0.00
Latin American 1 Sub 500 C=0.984 T=0.016
Latin American 2 Sub 628 C=0.989 T=0.011
South Asian Sub 98 C=0.99 T=0.01
Other Sub 8500 C=0.9739 T=0.0261


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.977219 T=0.022781
gnomAD - Exomes Global Study-wide 251052 C=0.975220 T=0.024780
gnomAD - Exomes European Sub 135188 C=0.964953 T=0.035047
gnomAD - Exomes Asian Sub 48946 C=0.98701 T=0.01299
gnomAD - Exomes American Sub 34552 C=0.98874 T=0.01126
gnomAD - Exomes African Sub 16256 C=0.99286 T=0.00714
gnomAD - Exomes Ashkenazi Jewish Sub 9986 C=0.9839 T=0.0161
gnomAD - Exomes Other Sub 6124 C=0.9704 T=0.0296
gnomAD - Genomes Global Study-wide 140096 C=0.976038 T=0.023962
gnomAD - Genomes European Sub 75880 C=0.96405 T=0.03595
gnomAD - Genomes African Sub 41968 C=0.99185 T=0.00815
gnomAD - Genomes American Sub 13652 C=0.98725 T=0.01275
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.9822 T=0.0178
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2146 C=0.9748 T=0.0252
ExAC Global Study-wide 121118 C=0.975842 T=0.024158
ExAC Europe Sub 73218 C=0.96834 T=0.03166
ExAC Asian Sub 25016 C=0.98609 T=0.01391
ExAC American Sub 11574 C=0.98557 T=0.01443
ExAC African Sub 10404 C=0.99289 T=0.00711
ExAC Other Sub 906 C=0.979 T=0.021
Allele Frequency Aggregator Total Global 49308 C=0.97069 T=0.02931
Allele Frequency Aggregator European Sub 37272 C=0.96770 T=0.03230
Allele Frequency Aggregator Other Sub 7068 C=0.9735 T=0.0265
Allele Frequency Aggregator African Sub 3574 C=0.9894 T=0.0106
Allele Frequency Aggregator Latin American 2 Sub 628 C=0.989 T=0.011
Allele Frequency Aggregator Latin American 1 Sub 500 C=0.984 T=0.016
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=0.99 T=0.01
GO Exome Sequencing Project Global Study-wide 13006 C=0.97309 T=0.02691
GO Exome Sequencing Project European American Sub 8600 C=0.9645 T=0.0355
GO Exome Sequencing Project African American Sub 4406 C=0.9898 T=0.0102
1000Genomes_30x Global Study-wide 6404 C=0.9853 T=0.0147
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9542 T=0.0458
1000Genomes_30x South Asian Sub 1202 C=0.9792 T=0.0208
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.989 T=0.011
1000Genomes Global Study-wide 5008 C=0.9852 T=0.0148
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9523 T=0.0477
1000Genomes South Asian Sub 978 C=0.982 T=0.018
1000Genomes American Sub 694 C=0.988 T=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9866 T=0.0134
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9546 T=0.0454
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9523 T=0.0477
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9997 T=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.980 T=0.020
Northern Sweden ACPOP Study-wide 600 C=0.982 T=0.018
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.966 T=0.034
FINRISK Finnish from FINRISK project Study-wide 304 C=0.961 T=0.039
Qatari Global Study-wide 216 C=0.991 T=0.009
SGDP_PRJ Global Study-wide 14 C=0.50 T=0.50
Help

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 17 NC_000017.11:g.44398189C>T
GRCh37.p13 chr 17 NC_000017.10:g.42475557C>T
GPATCH8 RefSeqGene NG_041943.1:g.110414G>A
Gene: GPATCH8, G-patch domain containing 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GPATCH8 transcript variant 1 NM_001002909.4:c.3888G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 1 NP_001002909.1:p.Gly1296= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant 4 NM_001304941.2:c.3654G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 3 NP_001291870.1:p.Gly1218= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant 2 NM_001304939.2:c.3813G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 2 NP_001291868.1:p.Gly1271= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant 5 NM_001304942.2:c.3654G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 3 NP_001291871.1:p.Gly1218= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant 3 NM_001304940.2:c.3654G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 3 NP_001291869.1:p.Gly1218= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant 6 NM_001304943.2:c.3654G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform 3 NP_001291872.1:p.Gly1218= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X1 XM_011524557.2:c.3975G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X1 XP_011522859.1:p.Gly1325= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X5 XM_047435672.1:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_047291628.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X2 XM_011524558.3:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_011522860.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X6 XM_047435673.1:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_047291629.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X3 XM_011524559.3:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_011522861.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X7 XM_017024373.2:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_016879862.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X4 XM_011524561.3:c.3741G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X2 XP_011522863.1:p.Gly1247= G (Gly) > G (Gly) Synonymous Variant
GPATCH8 transcript variant X8 XM_047435674.1:c.3654G>A G [GGG] > G [GGA] Coding Sequence Variant
G patch domain-containing protein 8 isoform X3 XP_047291630.1:p.Gly1218= G (Gly) > G (Gly) Synonymous Variant
Help

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
Help

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 17 NC_000017.11:g.44398189= NC_000017.11:g.44398189C>T
GRCh37.p13 chr 17 NC_000017.10:g.42475557= NC_000017.10:g.42475557C>T
GPATCH8 RefSeqGene NG_041943.1:g.110414= NG_041943.1:g.110414G>A
GPATCH8 transcript variant 1 NM_001002909.4:c.3888= NM_001002909.4:c.3888G>A
GPATCH8 transcript variant 1 NM_001002909.3:c.3888= NM_001002909.3:c.3888G>A
GPATCH8 transcript variant 1 NM_001002909.2:c.3888= NM_001002909.2:c.3888G>A
GPATCH8 transcript variant 3 NM_001304940.2:c.3654= NM_001304940.2:c.3654G>A
GPATCH8 transcript variant 3 NM_001304940.1:c.3654= NM_001304940.1:c.3654G>A
GPATCH8 transcript variant 6 NM_001304943.2:c.3654= NM_001304943.2:c.3654G>A
GPATCH8 transcript variant 6 NM_001304943.1:c.3654= NM_001304943.1:c.3654G>A
GPATCH8 transcript variant 4 NM_001304941.2:c.3654= NM_001304941.2:c.3654G>A
GPATCH8 transcript variant 4 NM_001304941.1:c.3654= NM_001304941.1:c.3654G>A
GPATCH8 transcript variant 5 NM_001304942.2:c.3654= NM_001304942.2:c.3654G>A
GPATCH8 transcript variant 5 NM_001304942.1:c.3654= NM_001304942.1:c.3654G>A
GPATCH8 transcript variant 2 NM_001304939.2:c.3813= NM_001304939.2:c.3813G>A
GPATCH8 transcript variant 2 NM_001304939.1:c.3813= NM_001304939.1:c.3813G>A
GPATCH8 transcript variant X3 XM_011524559.3:c.3741= XM_011524559.3:c.3741G>A
GPATCH8 transcript variant X5 XM_011524559.2:c.3741= XM_011524559.2:c.3741G>A
GPATCH8 transcript variant X3 XM_011524559.1:c.3741= XM_011524559.1:c.3741G>A
GPATCH8 transcript variant X2 XM_011524558.3:c.3741= XM_011524558.3:c.3741G>A
GPATCH8 transcript variant X3 XM_011524558.2:c.3741= XM_011524558.2:c.3741G>A
GPATCH8 transcript variant X4 XM_011524558.1:c.3741= XM_011524558.1:c.3741G>A
GPATCH8 transcript variant X4 XM_011524561.3:c.3741= XM_011524561.3:c.3741G>A
GPATCH8 transcript variant X9 XM_011524561.2:c.3741= XM_011524561.2:c.3741G>A
GPATCH8 transcript variant X5 XM_011524561.1:c.3741= XM_011524561.1:c.3741G>A
GPATCH8 transcript variant X7 XM_017024373.2:c.3741= XM_017024373.2:c.3741G>A
GPATCH8 transcript variant X8 XM_017024373.1:c.3741= XM_017024373.1:c.3741G>A
GPATCH8 transcript variant X1 XM_011524557.2:c.3975= XM_011524557.2:c.3975G>A
GPATCH8 transcript variant X1 XM_011524557.1:c.3975= XM_011524557.1:c.3975G>A
GPATCH8 transcript variant X8 XM_047435674.1:c.3654= XM_047435674.1:c.3654G>A
GPATCH8 transcript variant X6 XM_047435673.1:c.3741= XM_047435673.1:c.3741G>A
GPATCH8 transcript variant X5 XM_047435672.1:c.3741= XM_047435672.1:c.3741G>A
GPATCH8 transcript variant 2 NR_036474.1:n.4125= NR_036474.1:n.4125G>A
G patch domain-containing protein 8 isoform 1 NP_001002909.1:p.Gly1296= NP_001002909.1:p.Gly1296=
G patch domain-containing protein 8 isoform 3 NP_001291869.1:p.Gly1218= NP_001291869.1:p.Gly1218=
G patch domain-containing protein 8 isoform 3 NP_001291872.1:p.Gly1218= NP_001291872.1:p.Gly1218=
G patch domain-containing protein 8 isoform 3 NP_001291870.1:p.Gly1218= NP_001291870.1:p.Gly1218=
G patch domain-containing protein 8 isoform 3 NP_001291871.1:p.Gly1218= NP_001291871.1:p.Gly1218=
G patch domain-containing protein 8 isoform 2 NP_001291868.1:p.Gly1271= NP_001291868.1:p.Gly1271=
G patch domain-containing protein 8 isoform X2 XP_011522861.1:p.Gly1247= XP_011522861.1:p.Gly1247=
G patch domain-containing protein 8 isoform X2 XP_011522860.1:p.Gly1247= XP_011522860.1:p.Gly1247=
G patch domain-containing protein 8 isoform X2 XP_011522863.1:p.Gly1247= XP_011522863.1:p.Gly1247=
G patch domain-containing protein 8 isoform X2 XP_016879862.1:p.Gly1247= XP_016879862.1:p.Gly1247=
G patch domain-containing protein 8 isoform X1 XP_011522859.1:p.Gly1325= XP_011522859.1:p.Gly1325=
G patch domain-containing protein 8 isoform X3 XP_047291630.1:p.Gly1218= XP_047291630.1:p.Gly1218=
G patch domain-containing protein 8 isoform X2 XP_047291629.1:p.Gly1247= XP_047291629.1:p.Gly1247=
G patch domain-containing protein 8 isoform X2 XP_047291628.1:p.Gly1247= XP_047291628.1:p.Gly1247=
Help

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#.

46 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86268082 Mar 23, 2008 (129)
2 1000GENOMES ss237247111 Jul 15, 2010 (132)
3 NHLBI-ESP ss342456163 May 09, 2011 (134)
4 1000GENOMES ss491125200 May 04, 2012 (137)
5 CLINSEQ_SNP ss491737862 May 04, 2012 (137)
6 ILLUMINA ss533042527 Sep 08, 2015 (146)
7 EVA-GONL ss993119964 Aug 21, 2014 (142)
8 JMKIDD_LAB ss1067572083 Aug 21, 2014 (142)
9 1000GENOMES ss1358706380 Aug 21, 2014 (142)
10 EVA_FINRISK ss1584106679 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1635677762 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1678671795 Apr 01, 2015 (144)
13 EVA_EXAC ss1692815168 Apr 01, 2015 (144)
14 EVA_DECODE ss1697163333 Apr 01, 2015 (144)
15 EVA_MGP ss1711462747 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1936580445 Feb 12, 2016 (147)
17 JJLAB ss2029066747 Sep 14, 2016 (149)
18 HUMAN_LONGEVITY ss2216946076 Dec 20, 2016 (150)
19 GNOMAD ss2742774112 Nov 08, 2017 (151)
20 GNOMAD ss2749791458 Nov 08, 2017 (151)
21 GNOMAD ss2950022630 Nov 08, 2017 (151)
22 SWEGEN ss3015555954 Nov 08, 2017 (151)
23 CSHL ss3351751818 Nov 08, 2017 (151)
24 ILLUMINA ss3627673009 Oct 12, 2018 (152)
25 EGCUT_WGS ss3682441754 Jul 13, 2019 (153)
26 EVA_DECODE ss3700491715 Jul 13, 2019 (153)
27 ACPOP ss3742036096 Jul 13, 2019 (153)
28 EVA ss3825121449 Apr 27, 2020 (154)
29 EVA ss3825900741 Apr 27, 2020 (154)
30 SGDP_PRJ ss3885775321 Apr 27, 2020 (154)
31 KRGDB ss3935468981 Apr 27, 2020 (154)
32 EVA ss3986729712 Apr 27, 2021 (155)
33 TOPMED ss5036444510 Apr 27, 2021 (155)
34 EVA ss5237669158 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5303179380 Oct 16, 2022 (156)
36 EVA ss5427678399 Oct 16, 2022 (156)
37 HUGCELL_USP ss5496230084 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5606921267 Oct 16, 2022 (156)
39 SANFORD_IMAGENETICS ss5624397504 Oct 16, 2022 (156)
40 SANFORD_IMAGENETICS ss5660128352 Oct 16, 2022 (156)
41 EVA ss5834001029 Oct 16, 2022 (156)
42 EVA ss5847798637 Oct 16, 2022 (156)
43 EVA ss5848450714 Oct 16, 2022 (156)
44 EVA ss5914009430 Oct 16, 2022 (156)
45 EVA ss5951521334 Oct 16, 2022 (156)
46 EVA ss5979507730 Oct 16, 2022 (156)
47 1000Genomes NC_000017.10 - 42475557 Oct 12, 2018 (152)
48 1000Genomes_30x NC_000017.11 - 44398189 Oct 16, 2022 (156)
49 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 42475557 Oct 12, 2018 (152)
50 Genetic variation in the Estonian population NC_000017.10 - 42475557 Oct 12, 2018 (152)
51 ExAC NC_000017.10 - 42475557 Oct 12, 2018 (152)
52 FINRISK NC_000017.10 - 42475557 Apr 27, 2020 (154)
53 gnomAD - Genomes NC_000017.11 - 44398189 Apr 27, 2021 (155)
54 gnomAD - Exomes NC_000017.10 - 42475557 Jul 13, 2019 (153)
55 GO Exome Sequencing Project NC_000017.10 - 42475557 Oct 12, 2018 (152)
56 Genome of the Netherlands Release 5 NC_000017.10 - 42475557 Apr 27, 2020 (154)
57 KOREAN population from KRGDB NC_000017.10 - 42475557 Apr 27, 2020 (154)
58 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 42475557 Apr 27, 2020 (154)
59 Northern Sweden NC_000017.10 - 42475557 Jul 13, 2019 (153)
60 Qatari NC_000017.10 - 42475557 Apr 27, 2020 (154)
61 SGDP_PRJ NC_000017.10 - 42475557 Apr 27, 2020 (154)
62 TopMed NC_000017.11 - 44398189 Apr 27, 2021 (155)
63 UK 10K study - Twins NC_000017.10 - 42475557 Oct 12, 2018 (152)
64 ALFA NC_000017.11 - 44398189 Apr 27, 2021 (155)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491737862, ss1697163333 NC_000017.9:39831082:C:T NC_000017.11:44398188:C:T (self)
71950012, 39876361, 28180002, 3261303, 103140, 12079369, 1578527, 17771338, 42646375, 578507, 15320961, 18622367, 37792301, 39876361, ss237247111, ss342456163, ss491125200, ss533042527, ss993119964, ss1067572083, ss1358706380, ss1584106679, ss1635677762, ss1678671795, ss1692815168, ss1711462747, ss1936580445, ss2029066747, ss2742774112, ss2749791458, ss2950022630, ss3015555954, ss3351751818, ss3627673009, ss3682441754, ss3742036096, ss3825121449, ss3825900741, ss3885775321, ss3935468981, ss3986729712, ss5427678399, ss5624397504, ss5660128352, ss5834001029, ss5847798637, ss5848450714, ss5951521334, ss5979507730 NC_000017.10:42475556:C:T NC_000017.11:44398188:C:T (self)
94447202, 507636595, 251990172, 11712684865, ss2216946076, ss3700491715, ss5036444510, ss5237669158, ss5303179380, ss5496230084, ss5606921267, ss5914009430 NC_000017.11:44398188:C:T NC_000017.11:44398188:C:T (self)
ss86268082 NT_010783.15:7749708:C:T NC_000017.11:44398188:C:T (self)
Help

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

No publications for rs61746719

Help

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.

Software version is: 2.0.1.post761+d5e8e07