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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.

rs116321663

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1184997 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.015909 (4211/264690, TOPMED)
A=0.016254 (4058/249662, GnomAD_exome)
A=0.016470 (2310/140258, GnomAD) (+ 17 more)
A=0.018654 (2017/108128, ExAC)
A=0.00739 (581/78616, PAGE_STUDY)
A=0.02347 (1156/49260, ALFA)
C=0.00006 (1/16760, 8.3KJPN)
A=0.01884 (245/13004, GO-ESP)
A=0.0076 (38/5008, 1000G)
A=0.0248 (111/4480, Estonian)
A=0.0283 (109/3854, ALSPAC)
A=0.0248 (92/3708, TWINSUK)
A=0.035 (35/998, GoNL)
A=0.050 (30/600, NorthernSweden)
A=0.028 (15/534, MGP)
A=0.007 (2/294, FINRISK)
T=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)
T=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.1184997T>A
GRCh38.p13 chr 1 NC_000001.11:g.1184997T>C
GRCh37.p13 chr 1 NC_000001.10:g.1120377T>A
GRCh37.p13 chr 1 NC_000001.10:g.1120377T>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.1070T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Met357Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant 2 NM_153254.3:c.1070T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Met357Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1070T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Met357Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1070T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Met357Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1208T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Met403Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1208T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Met403Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1289T>A M [ATG] > K [AAG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Met430Lys M (Met) > K (Lys) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1289T>C M [ATG] > T [ACG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Met430Thr M (Met) > T (Thr) Missense Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1616T>A N/A Non Coding Transcript Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1616T>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 49260 T=0.97653 A=0.02347
European Sub 37246 T=0.97417 A=0.02583
African Sub 3560 T=0.9938 A=0.0062
African Others Sub 122 T=1.000 A=0.000
African American Sub 3438 T=0.9936 A=0.0064
Asian Sub 168 T=1.000 A=0.000
East Asian Sub 112 T=1.000 A=0.000
Other Asian Sub 56 T=1.00 A=0.00
Latin American 1 Sub 500 T=0.994 A=0.006
Latin American 2 Sub 628 T=0.982 A=0.018
South Asian Sub 98 T=0.99 A=0.01
Other Sub 7060 T=0.9778 A=0.0222


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 T=0.984091 A=0.015909
gnomAD - Exomes Global Study-wide 249662 T=0.983746 A=0.016254
gnomAD - Exomes European Sub 134196 T=0.976348 A=0.023652
gnomAD - Exomes Asian Sub 48852 T=0.99390 A=0.00610
gnomAD - Exomes American Sub 34400 T=0.99279 A=0.00721
gnomAD - Exomes African Sub 16112 T=0.99535 A=0.00465
gnomAD - Exomes Ashkenazi Jewish Sub 10006 T=0.98251 A=0.01749
gnomAD - Exomes Other Sub 6096 T=0.9856 A=0.0144
gnomAD - Genomes Global Study-wide 140258 T=0.983530 A=0.016470
gnomAD - Genomes European Sub 75930 T=0.97557 A=0.02443
gnomAD - Genomes African Sub 42060 T=0.99489 A=0.00511
gnomAD - Genomes American Sub 13662 T=0.98917 A=0.01083
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9843 A=0.0157
gnomAD - Genomes East Asian Sub 3132 T=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 T=0.9814 A=0.0186
ExAC Global Study-wide 108128 T=0.981346 A=0.018654
ExAC Europe Sub 65322 T=0.97387 A=0.02613
ExAC Asian Sub 22616 T=0.99217 A=0.00783
ExAC American Sub 10188 T=0.99401 A=0.00599
ExAC African Sub 9250 T=0.9938 A=0.0062
ExAC Other Sub 752 T=0.980 A=0.020
The PAGE Study Global Study-wide 78616 T=0.99261 A=0.00739
The PAGE Study AfricanAmerican Sub 32464 T=0.99461 A=0.00539
The PAGE Study Mexican Sub 10808 T=0.98973 A=0.01027
The PAGE Study Asian Sub 8300 T=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7916 T=0.9870 A=0.0130
The PAGE Study NativeHawaiian Sub 4526 T=0.9936 A=0.0064
The PAGE Study Cuban Sub 4226 T=0.9823 A=0.0177
The PAGE Study Dominican Sub 3828 T=0.9924 A=0.0076
The PAGE Study CentralAmerican Sub 2450 T=0.9939 A=0.0061
The PAGE Study SouthAmerican Sub 1982 T=0.9929 A=0.0071
The PAGE Study NativeAmerican Sub 1260 T=0.9849 A=0.0151
The PAGE Study SouthAsian Sub 856 T=0.988 A=0.012
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 C=0.00006
GO Exome Sequencing Project Global Study-wide 13004 T=0.98116 A=0.01884
GO Exome Sequencing Project European American Sub 8598 T=0.9758 A=0.0242
GO Exome Sequencing Project African American Sub 4406 T=0.9916 A=0.0084
1000Genomes Global Study-wide 5008 T=0.9924 A=0.0076
1000Genomes African Sub 1322 T=0.9970 A=0.0030
1000Genomes East Asian Sub 1008 T=1.0000 A=0.0000
1000Genomes Europe Sub 1006 T=0.9821 A=0.0179
1000Genomes South Asian Sub 978 T=0.988 A=0.012
1000Genomes American Sub 694 T=0.994 A=0.006
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9752 A=0.0248
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9717 A=0.0283
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9752 A=0.0248
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.965 A=0.035
Northern Sweden ACPOP Study-wide 600 T=0.950 A=0.050
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.972 A=0.028
FINRISK Finnish from FINRISK project Study-wide 294 T=0.993 A=0.007
SGDP_PRJ Global Study-wide 6 T=0.5 A=0.5
Siberian Global Study-wide 2 T=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 T= A C
GRCh38.p13 chr 1 NC_000001.11:g.1184997= NC_000001.11:g.1184997T>A NC_000001.11:g.1184997T>C
GRCh37.p13 chr 1 NC_000001.10:g.1120377= NC_000001.10:g.1120377T>A NC_000001.10:g.1120377T>C
TTLL10 transcript variant 2 NM_153254.3:c.1070= NM_153254.3:c.1070T>A NM_153254.3:c.1070T>C
TTLL10 transcript variant 2 NM_153254.2:c.1070= NM_153254.2:c.1070T>A NM_153254.2:c.1070T>C
TTLL10 transcript variant X7 XM_011541177.2:c.1289= XM_011541177.2:c.1289T>A XM_011541177.2:c.1289T>C
TTLL10 transcript variant 1 NM_001130045.2:c.1289= NM_001130045.2:c.1289T>A NM_001130045.2:c.1289T>C
TTLL10 transcript variant 1 NM_001130045.1:c.1289= NM_001130045.1:c.1289T>A NM_001130045.1:c.1289T>C
TTLL10 transcript variant X5 XM_017000910.2:c.1289= XM_017000910.2:c.1289T>A XM_017000910.2:c.1289T>C
TTLL10 transcript variant X1 XM_017000906.1:c.1208= XM_017000906.1:c.1208T>A XM_017000906.1:c.1208T>C
TTLL10 transcript variant 3 NM_001371649.1:c.1289= NM_001371649.1:c.1289T>A NM_001371649.1:c.1289T>C
TTLL10 transcript variant X8 XM_017000912.1:c.1289= XM_017000912.1:c.1289T>A XM_017000912.1:c.1289T>C
TTLL10 transcript variant X4 XM_017000909.1:c.1289= XM_017000909.1:c.1289T>A XM_017000909.1:c.1289T>C
TTLL10 transcript variant X10 XM_005244738.1:c.1070= XM_005244738.1:c.1070T>A XM_005244738.1:c.1070T>C
TTLL10 transcript variant X9 XR_001737088.1:n.1616= XR_001737088.1:n.1616T>A XR_001737088.1:n.1616T>C
TTLL10 transcript variant X3 XM_017000908.1:c.1289= XM_017000908.1:c.1289T>A XM_017000908.1:c.1289T>C
TTLL10 transcript variant X2 XM_017000907.1:c.1289= XM_017000907.1:c.1289T>A XM_017000907.1:c.1289T>C
TTLL10 transcript variant X6 XM_017000911.1:c.1289= XM_017000911.1:c.1289T>A XM_017000911.1:c.1289T>C
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Met357= NP_694986.2:p.Met357Lys NP_694986.2:p.Met357Thr
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Met430= XP_011539479.1:p.Met430Lys XP_011539479.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Met430= NP_001123517.1:p.Met430Lys NP_001123517.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Met430= XP_016856399.1:p.Met430Lys XP_016856399.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Met403= XP_016856395.1:p.Met403Lys XP_016856395.1:p.Met403Thr
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Met430= NP_001358578.1:p.Met430Lys NP_001358578.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Met430= XP_016856401.1:p.Met430Lys XP_016856401.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Met430= XP_016856398.1:p.Met430Lys XP_016856398.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Met357= XP_005244795.1:p.Met357Lys XP_005244795.1:p.Met357Thr
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Met430= XP_016856397.1:p.Met430Lys XP_016856397.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Met430= XP_016856396.1:p.Met430Lys XP_016856396.1:p.Met430Thr
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Met430= XP_016856400.1:p.Met430Lys XP_016856400.1:p.Met430Thr
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#.

55 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217314375 Jul 14, 2010 (132)
2 1000GENOMES ss217410451 Jul 14, 2010 (132)
3 1000GENOMES ss230396646 Jul 14, 2010 (132)
4 NHLBI-ESP ss341924438 May 09, 2011 (134)
5 1000GENOMES ss489714628 May 04, 2012 (137)
6 EXOME_CHIP ss491284078 May 04, 2012 (137)
7 CLINSEQ_SNP ss491581882 May 04, 2012 (137)
8 ILLUMINA ss534944216 Sep 08, 2015 (146)
9 ILLUMINA ss780766308 Sep 08, 2015 (146)
10 ILLUMINA ss783445663 Sep 08, 2015 (146)
11 EVA-GONL ss974772681 Aug 21, 2014 (142)
12 1000GENOMES ss1289353171 Aug 21, 2014 (142)
13 EVA_FINRISK ss1584003649 Apr 01, 2015 (144)
14 EVA_DECODE ss1584132617 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1599383857 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1642377890 Apr 01, 2015 (144)
17 EVA_EXAC ss1685226060 Apr 01, 2015 (144)
18 EVA_MGP ss1710883785 Apr 01, 2015 (144)
19 ILLUMINA ss1751863611 Sep 08, 2015 (146)
20 ILLUMINA ss1917721005 Feb 12, 2016 (147)
21 ILLUMINA ss1945981839 Feb 12, 2016 (147)
22 ILLUMINA ss1958230930 Feb 12, 2016 (147)
23 JJLAB ss2019500214 Sep 14, 2016 (149)
24 USC_VALOUEV ss2147487100 Dec 20, 2016 (150)
25 HUMAN_LONGEVITY ss2159391934 Dec 20, 2016 (150)
26 TOPMED ss2321531151 Dec 20, 2016 (150)
27 GNOMAD ss2731000392 Nov 08, 2017 (151)
28 GNOMAD ss2746174402 Nov 08, 2017 (151)
29 GNOMAD ss2750679717 Nov 08, 2017 (151)
30 SWEGEN ss2986155552 Nov 08, 2017 (151)
31 ILLUMINA ss3021043884 Nov 08, 2017 (151)
32 TOPMED ss3066489014 Nov 08, 2017 (151)
33 CSHL ss3343274671 Nov 08, 2017 (151)
34 ILLUMINA ss3626007221 Oct 11, 2018 (152)
35 ILLUMINA ss3626007222 Oct 11, 2018 (152)
36 ILLUMINA ss3634302110 Oct 11, 2018 (152)
37 ILLUMINA ss3640009476 Oct 11, 2018 (152)
38 ILLUMINA ss3644477703 Oct 11, 2018 (152)
39 ILLUMINA ss3651365938 Oct 11, 2018 (152)
40 EGCUT_WGS ss3654266582 Jul 12, 2019 (153)
41 EVA_DECODE ss3685999422 Jul 12, 2019 (153)
42 ILLUMINA ss3724988541 Jul 12, 2019 (153)
43 ACPOP ss3726719337 Jul 12, 2019 (153)
44 ILLUMINA ss3744337433 Jul 12, 2019 (153)
45 ILLUMINA ss3744603041 Jul 12, 2019 (153)
46 PAGE_CC ss3770778900 Jul 12, 2019 (153)
47 ILLUMINA ss3772104798 Jul 12, 2019 (153)
48 KHV_HUMAN_GENOMES ss3798747776 Jul 12, 2019 (153)
49 EVA ss3823543130 Apr 25, 2020 (154)
50 EVA ss3825549333 Apr 25, 2020 (154)
51 SGDP_PRJ ss3848005952 Apr 25, 2020 (154)
52 EVA ss3986091336 Apr 25, 2021 (155)
53 TOPMED ss4436540762 Apr 25, 2021 (155)
54 TOMMO_GENOMICS ss5142070299 Apr 25, 2021 (155)
55 EVA ss5236862473 Apr 25, 2021 (155)
56 1000Genomes NC_000001.10 - 1120377 Oct 11, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1120377 Oct 11, 2018 (152)
58 Genetic variation in the Estonian population NC_000001.10 - 1120377 Oct 11, 2018 (152)
59 ExAC NC_000001.10 - 1120377 Oct 11, 2018 (152)
60 FINRISK NC_000001.10 - 1120377 Apr 25, 2020 (154)
61 gnomAD - Genomes NC_000001.11 - 1184997 Apr 25, 2021 (155)
62 gnomAD - Exomes NC_000001.10 - 1120377 Jul 12, 2019 (153)
63 GO Exome Sequencing Project NC_000001.10 - 1120377 Oct 11, 2018 (152)
64 Genome of the Netherlands Release 5 NC_000001.10 - 1120377 Apr 25, 2020 (154)
65 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 1120377 Apr 25, 2020 (154)
66 Northern Sweden NC_000001.10 - 1120377 Jul 12, 2019 (153)
67 The PAGE Study NC_000001.11 - 1184997 Jul 12, 2019 (153)
68 SGDP_PRJ NC_000001.10 - 1120377 Apr 25, 2020 (154)
69 Siberian NC_000001.10 - 1120377 Apr 25, 2020 (154)
70 8.3KJPN NC_000001.10 - 1120377 Apr 25, 2021 (155)
71 TopMed NC_000001.11 - 1184997 Apr 25, 2021 (155)
72 UK 10K study - Twins NC_000001.10 - 1120377 Oct 11, 2018 (152)
73 ALFA NC_000001.11 - 1184997 Apr 25, 2021 (155)
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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
ss217314375, ss217410451, ss491581882, ss1584132617 NC_000001.9:1110239:T:A NC_000001.11:1184996:T:A (self)
18356, 6301, 4830, 4399749, 110, 15238, 1867, 2729, 537, 4202, 22932, 3454, 6301, ss230396646, ss341924438, ss489714628, ss491284078, ss534944216, ss780766308, ss783445663, ss974772681, ss1289353171, ss1584003649, ss1599383857, ss1642377890, ss1685226060, ss1710883785, ss1751863611, ss1917721005, ss1945981839, ss1958230930, ss2019500214, ss2147487100, ss2321531151, ss2731000392, ss2746174402, ss2750679717, ss2986155552, ss3021043884, ss3343274671, ss3626007221, ss3626007222, ss3634302110, ss3640009476, ss3644477703, ss3651365938, ss3654266582, ss3726719337, ss3744337433, ss3744603041, ss3772104798, ss3823543130, ss3825549333, ss3848005952, ss3986091336 NC_000001.10:1120376:T:A NC_000001.11:1184996:T:A (self)
160041, 369, 84490, 147097, 3924385368, ss2159391934, ss3066489014, ss3685999422, ss3724988541, ss3770778900, ss3798747776, ss4436540762, ss5236862473 NC_000001.11:1184996:T:A NC_000001.11:1184996:T:A (self)
39606, ss5142070299 NC_000001.10:1120376:T:C NC_000001.11:1184996:T:C
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs116321663

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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
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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