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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.

rs115023808

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:1180224 (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>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00498 (396/79526, ExAC)
A=0.00161 (48/29818, ALFA)
A=0.01481 (192/12960, GO-ESP) (+ 6 more)
A=0.0161 (103/6404, 1000G_30x)
A=0.0144 (72/5008, 1000G)
T=0.0003 (1/2912, KOREAN)
A=0.009 (2/216, Qatari)
C=0.5 (5/10, SGDP_PRJ)
A=0.5 (5/10, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TTLL10 : Synonymous Variant
TTLL10-AS1 : 2KB Upstream 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 29818 C=0.99839 A=0.00161, T=0.00000
European Sub 22010 C=1.00000 A=0.00000, T=0.00000
African Sub 3320 C=0.9883 A=0.0117, T=0.0000
African Others Sub 112 C=0.964 A=0.036, T=0.000
African American Sub 3208 C=0.9891 A=0.0109, T=0.0000
Asian Sub 172 C=1.000 A=0.000, T=0.000
East Asian Sub 114 C=1.000 A=0.000, T=0.000
Other Asian Sub 58 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 148 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 614 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 3456 C=0.9974 A=0.0026, T=0.0000


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
ExAC Global Study-wide 79526 C=0.99502 A=0.00498
ExAC Europe Sub 46646 C=0.99991 A=0.00009
ExAC Asian Sub 18948 C=1.00000 A=0.00000
ExAC American Sub 7486 C=0.9979 A=0.0021
ExAC African Sub 5862 C=0.9362 A=0.0638
ExAC Other Sub 584 C=0.997 A=0.003
Allele Frequency Aggregator Total Global 29818 C=0.99839 A=0.00161, T=0.00000
Allele Frequency Aggregator European Sub 22010 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator Other Sub 3456 C=0.9974 A=0.0026, T=0.0000
Allele Frequency Aggregator African Sub 3320 C=0.9883 A=0.0117, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 614 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 172 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 148 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 12960 C=0.98519 A=0.01481
GO Exome Sequencing Project European American Sub 8584 C=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4376 C=0.9561 A=0.0439
1000Genomes_30x Global Study-wide 6404 C=0.9839 A=0.0161
1000Genomes_30x African Sub 1786 C=0.9457 A=0.0543
1000Genomes_30x Europe Sub 1266 C=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000
1000Genomes_30x American Sub 980 C=0.994 A=0.006
1000Genomes Global Study-wide 5008 C=0.9856 A=0.0144
1000Genomes African Sub 1322 C=0.9486 A=0.0514
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=1.0000 A=0.0000
1000Genomes South Asian Sub 978 C=1.000 A=0.000
1000Genomes American Sub 694 C=0.994 A=0.006
KOREAN population from KRGDB KOREAN Study-wide 2912 C=0.9997 T=0.0003
Qatari Global Study-wide 216 C=0.991 A=0.009
SGDP_PRJ Global Study-wide 10 C=0.5 A=0.5
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 1 NC_000001.11:g.1180224C>A
GRCh38.p14 chr 1 NC_000001.11:g.1180224C>T
GRCh37.p13 chr 1 NC_000001.10:g.1115604C>A
GRCh37.p13 chr 1 NC_000001.10:g.1115604C>T
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.171C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala57= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant 2 NM_153254.3:c.171C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala57= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant 1 NM_001130045.2:c.390C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant 1 NM_001130045.2:c.390C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant 3 NM_001371649.1:c.390C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant 3 NM_001371649.1:c.390C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X1 XM_047416841.1:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_047272797.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X1 XM_047416841.1:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_047272797.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X2 XM_017000906.2:c.687C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856395.2:p.Ala229= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X2 XM_017000906.2:c.687C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856395.2:p.Ala229= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X3 XM_047416842.1:c.678C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_047272798.1:p.Ala226= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X3 XM_047416842.1:c.678C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_047272798.1:p.Ala226= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X4 XM_047416843.1:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_047272799.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X4 XM_047416843.1:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_047272799.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X5 XM_017000907.2:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856396.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X5 XM_017000907.2:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856396.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X6 XM_017000908.2:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856397.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X6 XM_017000908.2:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856397.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X7 XM_017000909.2:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856398.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X7 XM_017000909.2:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856398.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X8 XM_017000910.3:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856399.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X8 XM_017000910.3:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856399.2:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X9 XM_047416870.1:c.390C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_047272826.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X9 XM_047416870.1:c.390C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_047272826.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X10 XM_017000912.2:c.390C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_016856401.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X10 XM_017000912.2:c.390C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_016856401.1:p.Ala130= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X11 XM_047416882.1:c.768C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X9 XP_047272838.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X11 XM_047416882.1:c.768C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X9 XP_047272838.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X12 XM_005244738.2:c.171C>A A [GCC] > A [GCA] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X10 XP_005244795.1:p.Ala57= A (Ala) > A (Ala) Synonymous Variant
TTLL10 transcript variant X12 XM_005244738.2:c.171C>T A [GCC] > A [GCT] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X10 XP_005244795.1:p.Ala57= A (Ala) > A (Ala) Synonymous Variant
Gene: TTLL10-AS1, TTLL10 antisense RNA 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TTLL10-AS1 transcript NR_173246.1:n. N/A Upstream 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
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= A T
GRCh38.p14 chr 1 NC_000001.11:g.1180224= NC_000001.11:g.1180224C>A NC_000001.11:g.1180224C>T
GRCh37.p13 chr 1 NC_000001.10:g.1115604= NC_000001.10:g.1115604C>A NC_000001.10:g.1115604C>T
TTLL10 transcript variant X8 XM_017000910.3:c.768= XM_017000910.3:c.768C>A XM_017000910.3:c.768C>T
TTLL10 transcript variant X5 XM_017000910.2:c.390= XM_017000910.2:c.390C>A XM_017000910.2:c.390C>T
TTLL10 transcript variant X5 XM_017000910.1:c.390= XM_017000910.1:c.390C>A XM_017000910.1:c.390C>T
TTLL10 transcript variant 2 NM_153254.3:c.171= NM_153254.3:c.171C>A NM_153254.3:c.171C>T
TTLL10 transcript variant 2 NM_153254.2:c.171= NM_153254.2:c.171C>A NM_153254.2:c.171C>T
TTLL10 transcript variant X2 XM_017000906.2:c.687= XM_017000906.2:c.687C>A XM_017000906.2:c.687C>T
TTLL10 transcript variant X1 XM_017000906.1:c.309= XM_017000906.1:c.309C>A XM_017000906.1:c.309C>T
TTLL10 transcript variant X7 XM_017000909.2:c.768= XM_017000909.2:c.768C>A XM_017000909.2:c.768C>T
TTLL10 transcript variant X4 XM_017000909.1:c.390= XM_017000909.1:c.390C>A XM_017000909.1:c.390C>T
TTLL10 transcript variant X10 XM_017000912.2:c.390= XM_017000912.2:c.390C>A XM_017000912.2:c.390C>T
TTLL10 transcript variant X8 XM_017000912.1:c.390= XM_017000912.1:c.390C>A XM_017000912.1:c.390C>T
TTLL10 transcript variant 1 NM_001130045.2:c.390= NM_001130045.2:c.390C>A NM_001130045.2:c.390C>T
TTLL10 transcript variant 1 NM_001130045.1:c.390= NM_001130045.1:c.390C>A NM_001130045.1:c.390C>T
TTLL10 transcript variant X5 XM_017000907.2:c.768= XM_017000907.2:c.768C>A XM_017000907.2:c.768C>T
TTLL10 transcript variant X2 XM_017000907.1:c.390= XM_017000907.1:c.390C>A XM_017000907.1:c.390C>T
TTLL10 transcript variant X6 XM_017000908.2:c.768= XM_017000908.2:c.768C>A XM_017000908.2:c.768C>T
TTLL10 transcript variant X3 XM_017000908.1:c.390= XM_017000908.1:c.390C>A XM_017000908.1:c.390C>T
TTLL10 transcript variant X12 XM_005244738.2:c.171= XM_005244738.2:c.171C>A XM_005244738.2:c.171C>T
TTLL10 transcript variant X10 XM_005244738.1:c.171= XM_005244738.1:c.171C>A XM_005244738.1:c.171C>T
TTLL10 transcript variant X1 XM_047416841.1:c.768= XM_047416841.1:c.768C>A XM_047416841.1:c.768C>T
TTLL10 transcript variant X4 XM_047416843.1:c.768= XM_047416843.1:c.768C>A XM_047416843.1:c.768C>T
TTLL10 transcript variant X3 XM_047416842.1:c.678= XM_047416842.1:c.678C>A XM_047416842.1:c.678C>T
TTLL10 transcript variant 3 NM_001371649.1:c.390= NM_001371649.1:c.390C>A NM_001371649.1:c.390C>T
TTLL10 transcript variant X9 XM_047416870.1:c.390= XM_047416870.1:c.390C>A XM_047416870.1:c.390C>T
TTLL10 transcript variant X11 XM_047416882.1:c.768= XM_047416882.1:c.768C>A XM_047416882.1:c.768C>T
inactive polyglycylase TTLL10 isoform X7 XP_016856399.2:p.Ala256= XP_016856399.2:p.Ala256= XP_016856399.2:p.Ala256=
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala57= NP_694986.2:p.Ala57= NP_694986.2:p.Ala57=
inactive polyglycylase TTLL10 isoform X2 XP_016856395.2:p.Ala229= XP_016856395.2:p.Ala229= XP_016856395.2:p.Ala229=
inactive polyglycylase TTLL10 isoform X6 XP_016856398.2:p.Ala256= XP_016856398.2:p.Ala256= XP_016856398.2:p.Ala256=
inactive polyglycylase TTLL10 isoform X8 XP_016856401.1:p.Ala130= XP_016856401.1:p.Ala130= XP_016856401.1:p.Ala130=
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala130= NP_001123517.1:p.Ala130= NP_001123517.1:p.Ala130=
inactive polyglycylase TTLL10 isoform X4 XP_016856396.2:p.Ala256= XP_016856396.2:p.Ala256= XP_016856396.2:p.Ala256=
inactive polyglycylase TTLL10 isoform X5 XP_016856397.2:p.Ala256= XP_016856397.2:p.Ala256= XP_016856397.2:p.Ala256=
inactive polyglycylase TTLL10 isoform X10 XP_005244795.1:p.Ala57= XP_005244795.1:p.Ala57= XP_005244795.1:p.Ala57=
inactive polyglycylase TTLL10 isoform X1 XP_047272797.1:p.Ala256= XP_047272797.1:p.Ala256= XP_047272797.1:p.Ala256=
inactive polyglycylase TTLL10 isoform X1 XP_047272799.1:p.Ala256= XP_047272799.1:p.Ala256= XP_047272799.1:p.Ala256=
inactive polyglycylase TTLL10 isoform X3 XP_047272798.1:p.Ala226= XP_047272798.1:p.Ala226= XP_047272798.1:p.Ala226=
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala130= NP_001358578.1:p.Ala130= NP_001358578.1:p.Ala130=
inactive polyglycylase TTLL10 isoform X8 XP_047272826.1:p.Ala130= XP_047272826.1:p.Ala130= XP_047272826.1:p.Ala130=
inactive polyglycylase TTLL10 isoform X9 XP_047272838.1:p.Ala256= XP_047272838.1:p.Ala256= XP_047272838.1:p.Ala256=
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#.

32 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217405722 Jul 14, 2010 (132)
2 1000GENOMES ss217410874 Jul 14, 2010 (132)
3 1000GENOMES ss328359984 May 09, 2011 (134)
4 1000GENOMES ss489714592 May 04, 2012 (137)
5 ILLUMINA ss534949891 Sep 08, 2015 (146)
6 NHLBI-ESP ss712261362 Apr 25, 2013 (138)
7 JMKIDD_LAB ss1067414436 Aug 21, 2014 (142)
8 1000GENOMES ss1289352917 Aug 21, 2014 (142)
9 EVA_EXAC ss1685225679 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1917964721 Feb 12, 2016 (147)
11 HUMAN_LONGEVITY ss2159391497 Dec 20, 2016 (150)
12 GNOMAD ss2730999826 Nov 08, 2017 (151)
13 GNOMAD ss2746174203 Nov 08, 2017 (151)
14 GNOMAD ss2750679139 Nov 08, 2017 (151)
15 AFFY ss2984841274 Nov 08, 2017 (151)
16 ILLUMINA ss3626007200 Oct 11, 2018 (152)
17 ILLUMINA ss3653615040 Oct 11, 2018 (152)
18 KHV_HUMAN_GENOMES ss3798747720 Jul 12, 2019 (153)
19 EVA ss3823543032 Apr 25, 2020 (154)
20 SGDP_PRJ ss3848005820 Apr 25, 2020 (154)
21 KRGDB ss3892848786 Apr 25, 2020 (154)
22 EVA ss3986091286 Apr 25, 2021 (155)
23 TOPMED ss4436539269 Apr 25, 2021 (155)
24 TOPMED ss4436539270 Apr 25, 2021 (155)
25 1000G_HIGH_COVERAGE ss5240876071 Oct 12, 2022 (156)
26 EVA ss5316203723 Oct 12, 2022 (156)
27 HUGCELL_USP ss5442122347 Oct 12, 2022 (156)
28 1000G_HIGH_COVERAGE ss5512505632 Oct 12, 2022 (156)
29 SANFORD_IMAGENETICS ss5624756811 Oct 12, 2022 (156)
30 EVA ss5831423957 Oct 12, 2022 (156)
31 EVA ss5906717474 Oct 12, 2022 (156)
32 EVA ss5936588877 Oct 12, 2022 (156)
33 1000Genomes NC_000001.10 - 1115604 Oct 11, 2018 (152)
34 1000Genomes_30x NC_000001.11 - 1180224 Oct 12, 2022 (156)
35 ExAC NC_000001.10 - 1115604 Oct 11, 2018 (152)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 158759 (NC_000001.11:1180223:C:A 1980/140232)
Row 158760 (NC_000001.11:1180223:C:T 1/140232)

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

Submission ignored due to conflicting rows:
Row 158759 (NC_000001.11:1180223:C:A 1980/140232)
Row 158760 (NC_000001.11:1180223:C:T 1/140232)

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

Submission ignored due to conflicting rows:
Row 14655 (NC_000001.10:1115603:C:C 231337/232096, NC_000001.10:1115603:C:A 759/232096)
Row 14656 (NC_000001.10:1115603:C:C 232095/232096, NC_000001.10:1115603:C:T 1/232096)

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

Submission ignored due to conflicting rows:
Row 14655 (NC_000001.10:1115603:C:C 231337/232096, NC_000001.10:1115603:C:A 759/232096)
Row 14656 (NC_000001.10:1115603:C:C 232095/232096, NC_000001.10:1115603:C:T 1/232096)

- Jul 12, 2019 (153)
40 GO Exome Sequencing Project NC_000001.10 - 1115604 Oct 11, 2018 (152)
41 KOREAN population from KRGDB NC_000001.10 - 1115604 Apr 25, 2020 (154)
42 Qatari NC_000001.10 - 1115604 Apr 25, 2020 (154)
43 SGDP_PRJ NC_000001.10 - 1115604 Apr 25, 2020 (154)
44 TopMed

Submission ignored due to conflicting rows:
Row 145604 (NC_000001.11:1180223:C:A 4145/264690)
Row 145605 (NC_000001.11:1180223:C:T 1/264690)

- Apr 25, 2021 (155)
45 TopMed

Submission ignored due to conflicting rows:
Row 145604 (NC_000001.11:1180223:C:A 4145/264690)
Row 145605 (NC_000001.11:1180223:C:T 1/264690)

- Apr 25, 2021 (155)
46 ALFA NC_000001.11 - 1180224 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
ss217405722, ss217410874 NC_000001.9:1105466:C:A NC_000001.11:1180223:C:A (self)
18102, 4399333, 1769, 6651, 22800, ss328359984, ss489714592, ss534949891, ss712261362, ss1067414436, ss1289352917, ss1685225679, ss1917964721, ss2730999826, ss2746174203, ss2750679139, ss2984841274, ss3626007200, ss3653615040, ss3823543032, ss3848005820, ss3986091286, ss5316203723, ss5624756811, ss5831423957, ss5936588877 NC_000001.10:1115603:C:A NC_000001.11:1180223:C:A (self)
31567, 2022155718, ss2159391497, ss3798747720, ss4436539269, ss5240876071, ss5442122347, ss5512505632, ss5906717474 NC_000001.11:1180223:C:A NC_000001.11:1180223:C:A (self)
26180, ss2730999826, ss3892848786 NC_000001.10:1115603:C:T NC_000001.11:1180223:C:T (self)
2022155718, ss4436539270 NC_000001.11:1180223:C:T NC_000001.11:1180223: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 rs115023808

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