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dbSNP Short Genetic Variations

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.

rs1320571

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1185051 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.141921 (37565/264690, TOPMED)
A=0.059351 (13778/232146, ALFA)
A=0.20479 (16111/78670, PAGE_STUDY) (+ 16 more)
A=0.17453 (2924/16754, 8.3KJPN)
A=0.14363 (1868/13006, GO-ESP)
A=0.1853 (928/5008, 1000G)
A=0.1284 (376/2928, KOREAN)
A=0.2233 (422/1890, HapMap)
A=0.1169 (130/1112, Daghestan)
A=0.027 (27/998, GoNL)
A=0.095 (74/782, PRJEB37584)
A=0.147 (90/611, Vietnamese)
A=0.062 (37/600, NorthernSweden)
A=0.054 (29/534, MGP)
A=0.139 (30/216, Qatari)
G=0.431 (69/160, SGDP_PRJ)
A=0.02 (2/82, Ancient Sardinia)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TTLL10 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.1185051G>A
GRCh38.p13 chr 1 NC_000001.11:g.1185051G>C
GRCh37.p13 chr 1 NC_000001.10:g.1120431G>A
GRCh37.p13 chr 1 NC_000001.10:g.1120431G>C
Gene: TTLL10, tubulin tyrosine ligase like 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTLL10 transcript variant 2 NM_153254.3:c.1124G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ser375Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant 2 NM_153254.3:c.1124G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ser375Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1124G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ser375Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1124G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ser375Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1262G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ser421Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1262G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ser421Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1343G>A S [AGT] > N [AAT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1343G>C S [AGT] > T [ACT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ser448Thr S (Ser) > T (Thr) Missense Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1670G>A N/A Non Coding Transcript Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1670G>C N/A Non Coding Transcript Variant
TTLL10 transcript variant X11 XR_001737089.1:n. N/A Genic Downstream Transcript 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 232146 G=0.940632 A=0.059351, C=0.000017
European Sub 193164 G=0.954748 A=0.045231, C=0.000021
African Sub 9464 G=0.7396 A=0.2604, C=0.0000
African Others Sub 302 G=0.672 A=0.328, C=0.000
African American Sub 9162 G=0.7419 A=0.2581, C=0.0000
Asian Sub 6656 G=0.8759 A=0.1241, C=0.0000
East Asian Sub 4776 G=0.8903 A=0.1097, C=0.0000
Other Asian Sub 1880 G=0.8394 A=0.1606, C=0.0000
Latin American 1 Sub 868 G=0.866 A=0.134, C=0.000
Latin American 2 Sub 5308 G=0.9495 A=0.0505, C=0.0000
South Asian Sub 330 G=0.812 A=0.188, C=0.000
Other Sub 16356 G=0.92021 A=0.07979, C=0.00000


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 G=0.858079 A=0.141921
The PAGE Study Global Study-wide 78670 G=0.79521 A=0.20479
The PAGE Study AfricanAmerican Sub 32492 G=0.68491 A=0.31509
The PAGE Study Mexican Sub 10808 G=0.94282 A=0.05718
The PAGE Study Asian Sub 8314 G=0.8168 A=0.1832
The PAGE Study PuertoRican Sub 7918 G=0.8707 A=0.1293
The PAGE Study NativeHawaiian Sub 4534 G=0.8066 A=0.1934
The PAGE Study Cuban Sub 4228 G=0.9070 A=0.0930
The PAGE Study Dominican Sub 3828 G=0.7965 A=0.2035
The PAGE Study CentralAmerican Sub 2450 G=0.9167 A=0.0833
The PAGE Study SouthAmerican Sub 1982 G=0.9203 A=0.0797
The PAGE Study NativeAmerican Sub 1260 G=0.9016 A=0.0984
The PAGE Study SouthAsian Sub 856 G=0.798 A=0.202
8.3KJPN JAPANESE Study-wide 16754 G=0.82547 A=0.17453
GO Exome Sequencing Project Global Study-wide 13006 G=0.85637 A=0.14363
GO Exome Sequencing Project European American Sub 8600 G=0.9474 A=0.0526
GO Exome Sequencing Project African American Sub 4406 G=0.6786 A=0.3214
1000Genomes Global Study-wide 5008 G=0.8147 A=0.1853
1000Genomes African Sub 1322 G=0.6392 A=0.3608
1000Genomes East Asian Sub 1008 G=0.8522 A=0.1478
1000Genomes Europe Sub 1006 G=0.9483 A=0.0517
1000Genomes South Asian Sub 978 G=0.784 A=0.216
1000Genomes American Sub 694 G=0.944 A=0.056
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.8716 A=0.1284, C=0.0000
HapMap Global Study-wide 1890 G=0.7767 A=0.2233
HapMap American Sub 768 G=0.876 A=0.124
HapMap African Sub 692 G=0.603 A=0.397
HapMap Asian Sub 254 G=0.827 A=0.173
HapMap Europe Sub 176 G=0.955 A=0.045
Genome-wide autozygosity in Daghestan Global Study-wide 1112 G=0.8831 A=0.1169
Genome-wide autozygosity in Daghestan Daghestan Sub 614 G=0.894 A=0.106
Genome-wide autozygosity in Daghestan Near_East Sub 142 G=0.859 A=0.141
Genome-wide autozygosity in Daghestan Central Asia Sub 118 G=0.915 A=0.085
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.944 A=0.056
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.72 A=0.28
Genome-wide autozygosity in Daghestan Caucasus Sub 32 G=0.94 A=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.973 A=0.027
CNV burdens in cranial meningiomas Global Study-wide 782 G=0.905 A=0.095
CNV burdens in cranial meningiomas CRM Sub 782 G=0.905 A=0.095
A Vietnamese Genetic Variation Database Global Study-wide 611 G=0.853 A=0.147
Northern Sweden ACPOP Study-wide 600 G=0.938 A=0.062
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.946 A=0.054
Qatari Global Study-wide 216 G=0.861 A=0.139
SGDP_PRJ Global Study-wide 160 G=0.431 A=0.569
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 G=0.98 A=0.02
Siberian Global Study-wide 2 G=0.5 A=0.5
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 G= A C
GRCh38.p13 chr 1 NC_000001.11:g.1185051= NC_000001.11:g.1185051G>A NC_000001.11:g.1185051G>C
GRCh37.p13 chr 1 NC_000001.10:g.1120431= NC_000001.10:g.1120431G>A NC_000001.10:g.1120431G>C
TTLL10 transcript variant 2 NM_153254.3:c.1124= NM_153254.3:c.1124G>A NM_153254.3:c.1124G>C
TTLL10 transcript variant 2 NM_153254.2:c.1124= NM_153254.2:c.1124G>A NM_153254.2:c.1124G>C
TTLL10 transcript variant X7 XM_011541177.2:c.1343= XM_011541177.2:c.1343G>A XM_011541177.2:c.1343G>C
TTLL10 transcript variant 1 NM_001130045.2:c.1343= NM_001130045.2:c.1343G>A NM_001130045.2:c.1343G>C
TTLL10 transcript variant 1 NM_001130045.1:c.1343= NM_001130045.1:c.1343G>A NM_001130045.1:c.1343G>C
TTLL10 transcript variant X5 XM_017000910.2:c.1343= XM_017000910.2:c.1343G>A XM_017000910.2:c.1343G>C
TTLL10 transcript variant X1 XM_017000906.1:c.1262= XM_017000906.1:c.1262G>A XM_017000906.1:c.1262G>C
TTLL10 transcript variant 3 NM_001371649.1:c.1343= NM_001371649.1:c.1343G>A NM_001371649.1:c.1343G>C
TTLL10 transcript variant X8 XM_017000912.1:c.1343= XM_017000912.1:c.1343G>A XM_017000912.1:c.1343G>C
TTLL10 transcript variant X4 XM_017000909.1:c.1343= XM_017000909.1:c.1343G>A XM_017000909.1:c.1343G>C
TTLL10 transcript variant X10 XM_005244738.1:c.1124= XM_005244738.1:c.1124G>A XM_005244738.1:c.1124G>C
TTLL10 transcript variant X9 XR_001737088.1:n.1670= XR_001737088.1:n.1670G>A XR_001737088.1:n.1670G>C
TTLL10 transcript variant X3 XM_017000908.1:c.1343= XM_017000908.1:c.1343G>A XM_017000908.1:c.1343G>C
TTLL10 transcript variant X2 XM_017000907.1:c.1343= XM_017000907.1:c.1343G>A XM_017000907.1:c.1343G>C
TTLL10 transcript variant X6 XM_017000911.1:c.1343= XM_017000911.1:c.1343G>A XM_017000911.1:c.1343G>C
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ser375= NP_694986.2:p.Ser375Asn NP_694986.2:p.Ser375Thr
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ser448= XP_011539479.1:p.Ser448Asn XP_011539479.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ser448= NP_001123517.1:p.Ser448Asn NP_001123517.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ser448= XP_016856399.1:p.Ser448Asn XP_016856399.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ser421= XP_016856395.1:p.Ser421Asn XP_016856395.1:p.Ser421Thr
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ser448= NP_001358578.1:p.Ser448Asn NP_001358578.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ser448= XP_016856401.1:p.Ser448Asn XP_016856401.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ser448= XP_016856398.1:p.Ser448Asn XP_016856398.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ser375= XP_005244795.1:p.Ser375Asn XP_005244795.1:p.Ser375Thr
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ser448= XP_016856397.1:p.Ser448Asn XP_016856397.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ser448= XP_016856396.1:p.Ser448Asn XP_016856396.1:p.Ser448Thr
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ser448= XP_016856400.1:p.Ser448Asn XP_016856400.1:p.Ser448Thr
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#.

118 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2088927 Oct 23, 2000 (88)
2 SC_JCM ss5997038 Feb 20, 2003 (111)
3 WI_SSAHASNP ss11398393 Jul 11, 2003 (116)
4 ABI ss44104255 Mar 15, 2006 (126)
5 ILLUMINA ss74863470 Dec 06, 2007 (129)
6 SEATTLESEQ ss159695685 Dec 01, 2009 (131)
7 ILLUMINA ss160323162 Dec 01, 2009 (131)
8 ILLUMINA ss172354055 Jul 04, 2010 (132)
9 BUSHMAN ss197889700 Jul 04, 2010 (132)
10 1000GENOMES ss217314380 Jul 14, 2010 (132)
11 1000GENOMES ss217390818 Jul 14, 2010 (132)
12 1000GENOMES ss217392054 Jul 14, 2010 (132)
13 1000GENOMES ss217399954 Jul 14, 2010 (132)
14 1000GENOMES ss217405749 Jul 14, 2010 (132)
15 1000GENOMES ss217410456 Jul 14, 2010 (132)
16 1000GENOMES ss217410902 Jul 14, 2010 (132)
17 1000GENOMES ss218192292 Jul 14, 2010 (132)
18 1000GENOMES ss230396647 Jul 14, 2010 (132)
19 1000GENOMES ss238116138 Jul 15, 2010 (132)
20 BL ss252866467 May 09, 2011 (134)
21 NHLBI-ESP ss341924447 May 09, 2011 (134)
22 ILLUMINA ss480509340 Sep 08, 2015 (146)
23 ILLUMINA ss482069380 May 04, 2012 (137)
24 ILLUMINA ss483232617 May 04, 2012 (137)
25 1000GENOMES ss489714630 May 04, 2012 (137)
26 EXOME_CHIP ss491284080 May 04, 2012 (137)
27 CLINSEQ_SNP ss491581883 May 04, 2012 (137)
28 ILLUMINA ss535451510 Sep 08, 2015 (146)
29 TISHKOFF ss553714423 Apr 25, 2013 (138)
30 SSMP ss647518913 Apr 25, 2013 (138)
31 ILLUMINA ss780200581 Sep 08, 2015 (146)
32 ILLUMINA ss780766873 Sep 08, 2015 (146)
33 ILLUMINA ss782059783 Sep 08, 2015 (146)
34 ILLUMINA ss783446256 Sep 08, 2015 (146)
35 ILLUMINA ss835685161 Sep 08, 2015 (146)
36 JMKIDD_LAB ss974432496 Aug 21, 2014 (142)
37 EVA-GONL ss974772684 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1067414452 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1067614029 Aug 21, 2014 (142)
40 1000GENOMES ss1289353173 Aug 21, 2014 (142)
41 HAMMER_LAB ss1397238525 Sep 08, 2015 (146)
42 DDI ss1425686017 Apr 01, 2015 (144)
43 EVA_DECODE ss1584132618 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1599383858 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1599383859 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1642377891 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1642377892 Apr 01, 2015 (144)
48 EVA_EXAC ss1685226071 Apr 01, 2015 (144)
49 EVA_EXAC ss1685226072 Apr 01, 2015 (144)
50 EVA_MGP ss1710883786 Apr 01, 2015 (144)
51 EVA_SVP ss1712305573 Apr 01, 2015 (144)
52 ILLUMINA ss1751863624 Sep 08, 2015 (146)
53 HAMMER_LAB ss1793718229 Sep 08, 2015 (146)
54 ILLUMINA ss1917721007 Feb 12, 2016 (147)
55 WEILL_CORNELL_DGM ss1917964782 Feb 12, 2016 (147)
56 ILLUMINA ss1945981841 Feb 12, 2016 (147)
57 ILLUMINA ss1958230932 Feb 12, 2016 (147)
58 ILLUMINA ss1958230933 Feb 12, 2016 (147)
59 JJLAB ss2019500215 Sep 14, 2016 (149)
60 ILLUMINA ss2094839598 Dec 20, 2016 (150)
61 ILLUMINA ss2094948850 Dec 20, 2016 (150)
62 USC_VALOUEV ss2147487102 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2159391940 Dec 20, 2016 (150)
64 TOPMED ss2321531155 Dec 20, 2016 (150)
65 SYSTEMSBIOZJU ss2624265694 Nov 08, 2017 (151)
66 ILLUMINA ss2632465826 Nov 08, 2017 (151)
67 GRF ss2697377879 Nov 08, 2017 (151)
68 GNOMAD ss2731000405 Nov 08, 2017 (151)
69 GNOMAD ss2746174407 Nov 08, 2017 (151)
70 GNOMAD ss2750679722 Nov 08, 2017 (151)
71 AFFY ss2984841296 Nov 08, 2017 (151)
72 SWEGEN ss2986155554 Nov 08, 2017 (151)
73 ILLUMINA ss3021043886 Nov 08, 2017 (151)
74 ILLUMINA ss3021043887 Nov 08, 2017 (151)
75 TOPMED ss3066489024 Nov 08, 2017 (151)
76 TOPMED ss3066489025 Nov 08, 2017 (151)
77 CSHL ss3343274672 Nov 08, 2017 (151)
78 ILLUMINA ss3626007224 Oct 11, 2018 (152)
79 ILLUMINA ss3626007225 Oct 11, 2018 (152)
80 ILLUMINA ss3630505836 Oct 11, 2018 (152)
81 ILLUMINA ss3634302112 Oct 11, 2018 (152)
82 ILLUMINA ss3635978742 Oct 11, 2018 (152)
83 ILLUMINA ss3637732524 Oct 11, 2018 (152)
84 ILLUMINA ss3640009478 Oct 11, 2018 (152)
85 ILLUMINA ss3641566388 Oct 11, 2018 (152)
86 ILLUMINA ss3642746807 Oct 11, 2018 (152)
87 ILLUMINA ss3644477705 Oct 11, 2018 (152)
88 OMUKHERJEE_ADBS ss3646219029 Oct 11, 2018 (152)
89 ILLUMINA ss3651365940 Oct 11, 2018 (152)
90 ILLUMINA ss3651365941 Oct 11, 2018 (152)
91 ILLUMINA ss3651365942 Oct 11, 2018 (152)
92 ILLUMINA ss3653615062 Oct 11, 2018 (152)
93 EGCUT_WGS ss3654266584 Jul 12, 2019 (153)
94 EGCUT_WGS ss3654266585 Jul 12, 2019 (153)
95 EVA_DECODE ss3685999423 Jul 12, 2019 (153)
96 EVA_DECODE ss3685999424 Jul 12, 2019 (153)
97 ILLUMINA ss3724988543 Jul 12, 2019 (153)
98 ACPOP ss3726719338 Jul 12, 2019 (153)
99 ILLUMINA ss3744337435 Jul 12, 2019 (153)
100 ILLUMINA ss3744603043 Jul 12, 2019 (153)
101 EVA ss3745725123 Jul 12, 2019 (153)
102 PAGE_CC ss3770778902 Jul 12, 2019 (153)
103 ILLUMINA ss3772104800 Jul 12, 2019 (153)
104 KHV_HUMAN_GENOMES ss3798747777 Jul 12, 2019 (153)
105 EVA ss3823543134 Apr 25, 2020 (154)
106 EVA ss3825549334 Apr 25, 2020 (154)
107 EVA ss3825982910 Apr 25, 2020 (154)
108 SGDP_PRJ ss3848005955 Apr 25, 2020 (154)
109 KRGDB ss3892848916 Apr 25, 2020 (154)
110 FSA-LAB ss3983910771 Apr 25, 2021 (155)
111 EVA ss3984450768 Apr 25, 2021 (155)
112 EVA ss3984774112 Apr 25, 2021 (155)
113 EVA ss3986007857 Apr 25, 2021 (155)
114 EVA ss3986091337 Apr 25, 2021 (155)
115 TOPMED ss4436540774 Apr 25, 2021 (155)
116 TOMMO_GENOMICS ss5142070300 Apr 25, 2021 (155)
117 EVA ss5236862474 Apr 25, 2021 (155)
118 EVA ss5237258300 Apr 25, 2021 (155)
119 1000Genomes NC_000001.10 - 1120431 Oct 11, 2018 (152)
120 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6302 (NC_000001.10:1120430:G:G 3675/3854, NC_000001.10:1120430:G:A 179/3854)
Row 6303 (NC_000001.10:1120430:G:G 3853/3854, NC_000001.10:1120430:G:C 1/3854)

- Oct 11, 2018 (152)
121 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6302 (NC_000001.10:1120430:G:G 3675/3854, NC_000001.10:1120430:G:A 179/3854)
Row 6303 (NC_000001.10:1120430:G:G 3853/3854, NC_000001.10:1120430:G:C 1/3854)

- Oct 11, 2018 (152)
122 Genome-wide autozygosity in Daghestan NC_000001.9 - 1110294 Apr 25, 2020 (154)
123 Genetic variation in the Estonian population

Submission ignored due to conflicting rows:
Row 4832 (NC_000001.10:1120430:G:G 4309/4476, NC_000001.10:1120430:G:A 167/4476)
Row 4833 (NC_000001.10:1120430:G:G 4149/4150, NC_000001.10:1120430:G:C 1/4150)

- Oct 11, 2018 (152)
124 Genetic variation in the Estonian population

Submission ignored due to conflicting rows:
Row 4832 (NC_000001.10:1120430:G:G 4309/4476, NC_000001.10:1120430:G:A 167/4476)
Row 4833 (NC_000001.10:1120430:G:G 4149/4150, NC_000001.10:1120430:G:C 1/4150)

- Oct 11, 2018 (152)
125 ExAC

Submission ignored due to conflicting rows:
Row 4399760 (NC_000001.10:1120430:G:G 105360/118134, NC_000001.10:1120430:G:A 12774/118134)
Row 4399761 (NC_000001.10:1120430:G:G 118119/118134, NC_000001.10:1120430:G:C 15/118134)

- Oct 11, 2018 (152)
126 ExAC

Submission ignored due to conflicting rows:
Row 4399760 (NC_000001.10:1120430:G:G 105360/118134, NC_000001.10:1120430:G:A 12774/118134)
Row 4399761 (NC_000001.10:1120430:G:G 118119/118134, NC_000001.10:1120430:G:C 15/118134)

- Oct 11, 2018 (152)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 160055 (NC_000001.11:1185050:G:A 19151/140138)
Row 160056 (NC_000001.11:1185050:G:C 32/140178)

- Apr 25, 2021 (155)
128 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 160055 (NC_000001.11:1185050:G:A 19151/140138)
Row 160056 (NC_000001.11:1185050:G:C 32/140178)

- Apr 25, 2021 (155)
129 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 15249 (NC_000001.10:1120430:G:G 226307/250396, NC_000001.10:1120430:G:A 24089/250396)
Row 15250 (NC_000001.10:1120430:G:G 250364/250396, NC_000001.10:1120430:G:C 32/250396)

- Jul 12, 2019 (153)
130 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 15249 (NC_000001.10:1120430:G:G 226307/250396, NC_000001.10:1120430:G:A 24089/250396)
Row 15250 (NC_000001.10:1120430:G:G 250364/250396, NC_000001.10:1120430:G:C 32/250396)

- Jul 12, 2019 (153)
131 GO Exome Sequencing Project NC_000001.10 - 1120431 Oct 11, 2018 (152)
132 Genome of the Netherlands Release 5 NC_000001.10 - 1120431 Apr 25, 2020 (154)
133 HapMap NC_000001.11 - 1185051 Apr 25, 2020 (154)
134 KOREAN population from KRGDB NC_000001.10 - 1120431 Apr 25, 2020 (154)
135 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 1120431 Apr 25, 2020 (154)
136 Northern Sweden NC_000001.10 - 1120431 Jul 12, 2019 (153)
137 The PAGE Study NC_000001.11 - 1185051 Jul 12, 2019 (153)
138 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1120431 Apr 25, 2021 (155)
139 CNV burdens in cranial meningiomas NC_000001.10 - 1120431 Apr 25, 2021 (155)
140 Qatari NC_000001.10 - 1120431 Apr 25, 2020 (154)
141 SGDP_PRJ NC_000001.10 - 1120431 Apr 25, 2020 (154)
142 Siberian NC_000001.10 - 1120431 Apr 25, 2020 (154)
143 8.3KJPN NC_000001.10 - 1120431 Apr 25, 2021 (155)
144 TopMed NC_000001.11 - 1185051 Apr 25, 2021 (155)
145 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6302 (NC_000001.10:1120430:G:G 3537/3708, NC_000001.10:1120430:G:A 171/3708)
Row 6303 (NC_000001.10:1120430:G:G 3706/3708, NC_000001.10:1120430:G:C 2/3708)

- Oct 11, 2018 (152)
146 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6302 (NC_000001.10:1120430:G:G 3537/3708, NC_000001.10:1120430:G:A 171/3708)
Row 6303 (NC_000001.10:1120430:G:G 3706/3708, NC_000001.10:1120430:G:C 2/3708)

- Oct 11, 2018 (152)
147 A Vietnamese Genetic Variation Database NC_000001.10 - 1120431 Jul 12, 2019 (153)
148 ALFA NC_000001.11 - 1185051 Apr 25, 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
12, ss197889700, ss217314380, ss217390818, ss217392054, ss217399954, ss217405749, ss217410456, ss217410902, ss252866467, ss482069380, ss491581883, ss1397238525, ss1584132618, ss1712305573, ss2094839598, ss3642746807 NC_000001.9:1110293:G:A NC_000001.11:1185050:G:A (self)
18358, 1871, 2732, 26310, 538, 4203, 39, 67, 6712, 22935, 3456, 39607, 1387, ss218192292, ss230396647, ss238116138, ss341924447, ss480509340, ss483232617, ss489714630, ss491284080, ss535451510, ss553714423, ss647518913, ss780200581, ss780766873, ss782059783, ss783446256, ss835685161, ss974432496, ss974772684, ss1067414452, ss1067614029, ss1289353173, ss1425686017, ss1599383858, ss1642377891, ss1685226071, ss1710883786, ss1751863624, ss1793718229, ss1917721007, ss1917964782, ss1945981841, ss1958230932, ss1958230933, ss2019500215, ss2094948850, ss2147487102, ss2321531155, ss2624265694, ss2632465826, ss2697377879, ss2731000405, ss2746174407, ss2750679722, ss2984841296, ss2986155554, ss3021043886, ss3021043887, ss3343274672, ss3626007224, ss3626007225, ss3630505836, ss3634302112, ss3635978742, ss3637732524, ss3640009478, ss3641566388, ss3644477705, ss3646219029, ss3651365940, ss3651365941, ss3651365942, ss3653615062, ss3654266584, ss3726719338, ss3744337435, ss3744603043, ss3745725123, ss3772104800, ss3823543134, ss3825549334, ss3825982910, ss3848005955, ss3892848916, ss3983910771, ss3984450768, ss3984774112, ss3986007857, ss3986091337, ss5142070300, ss5237258300 NC_000001.10:1120430:G:A NC_000001.11:1185050:G:A (self)
267, 371, 84499, 147109, 7163285338, ss2159391940, ss3066489024, ss3685999423, ss3724988543, ss3770778902, ss3798747777, ss4436540774, ss5236862474 NC_000001.11:1185050:G:A NC_000001.11:1185050:G:A (self)
ss2088927, ss5997038, ss44104255, ss74863470, ss159695685, ss160323162, ss172354055 NT_004350.19:599062:G:A NC_000001.11:1185050:G:A (self)
ss11398393 NT_077960.1:189871:G:A NC_000001.11:1185050:G:A (self)
26310, ss1599383859, ss1642377892, ss1685226072, ss2731000405, ss2746174407, ss2750679722, ss3654266585, ss3892848916 NC_000001.10:1120430:G:C NC_000001.11:1185050:G:C (self)
7163285338, ss2159391940, ss3066489025, ss3685999424 NC_000001.11:1185050:G:C NC_000001.11:1185050:G:C (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 rs1320571

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.post596+ae089ad