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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.

rs6695710

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17664557 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000144 (38/264690, TOPMED)
T=0.000057 (11/192918, ALFA)
T=0.000107 (15/140228, GnomAD) (+ 4 more)
T=0.00022 (17/78646, PAGE_STUDY)
C=0.0000 (0/2930, KOREAN)
A=0.0000 (0/2930, KOREAN)
G=0.0000 (0/2930, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : 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.17664557C>A
GRCh38.p13 chr 1 NC_000001.11:g.17664557C>G
GRCh38.p13 chr 1 NC_000001.11:g.17664557C>T
GRCh37.p13 chr 1 NC_000001.10:g.17991052T>C
GRCh37.p13 chr 1 NC_000001.10:g.17991052T>A
GRCh37.p13 chr 1 NC_000001.10:g.17991052T>G
ARHGEF10L RefSeqGene NG_050860.1:g.149361C>A
ARHGEF10L RefSeqGene NG_050860.1:g.149361C>G
ARHGEF10L RefSeqGene NG_050860.1:g.149361C>T
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 2 NM_001011722.2:c.2854C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg952= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.2854C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg952Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.2854C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg952Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.2839C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg947= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.2839C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg947Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.2839C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg947Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.2080C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Arg694= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.2080C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Arg694Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.2080C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Arg694Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.2305C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Arg769= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.2305C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Arg769Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.2305C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Arg769Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.2971C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg991= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.2971C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg991Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.2971C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg991Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.4014C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.4014C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.4014C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.3894C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.3894C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.3894C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.2863C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg955= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.2863C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg955Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.2863C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg955Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.2863C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg955= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.2863C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg955Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.2863C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg955Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.2854C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg952= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.2854C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg952Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.2854C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg952Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.2857C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg953= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.2857C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg953Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.2857C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg953Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.2851C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg951= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.2851C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg951Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.2851C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg951Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.2842C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg948= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.2842C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg948Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.2842C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg948Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.2839C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg947= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.2839C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg947Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.2839C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg947Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.2260C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Arg754= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.2260C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Arg754Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.2260C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Arg754Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.2851C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg951= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.2851C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg951Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.2851C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg951Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.2971C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg991= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.2971C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg991Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.2971C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg991Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.2956C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg986= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.2956C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg986Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.2956C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg986Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.2866C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg956= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.2866C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg956Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.2866C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg956Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.2290C>A R [CGG] > R [AGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Arg764= R (Arg) > R (Arg) Synonymous Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.2290C>G R [CGG] > G [GGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Arg764Gly R (Arg) > G (Gly) Missense Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.2290C>T R [CGG] > W [TGG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Arg764Trp R (Arg) > W (Trp) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.2996C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.2996C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.2996C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.2873C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.2873C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.2873C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.2995C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.2995C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.2995C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.3617C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.3617C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.3617C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.3602C>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.3602C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.3602C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2: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 192918 C=0.999943 T=0.000057
European Sub 166540 C=0.999958 T=0.000042
African Sub 5218 C=0.9996 T=0.0004
African Others Sub 174 C=1.000 T=0.000
African American Sub 5044 C=0.9996 T=0.0004
Asian Sub 3414 C=1.0000 T=0.0000
East Asian Sub 2728 C=1.0000 T=0.0000
Other Asian Sub 686 C=1.000 T=0.000
Latin American 1 Sub 798 C=1.000 T=0.000
Latin American 2 Sub 1002 C=1.0000 T=0.0000
South Asian Sub 296 C=1.000 T=0.000
Other Sub 15650 C=0.99987 T=0.00013


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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999856 T=0.000144
gnomAD - Genomes Global Study-wide 140228 C=0.999893 T=0.000107
gnomAD - Genomes European Sub 75950 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42016 C=0.99967 T=0.00033
gnomAD - Genomes American Sub 13660 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3128 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
The PAGE Study Global Study-wide 78646 C=0.99978 T=0.00022
The PAGE Study AfricanAmerican Sub 32496 C=0.99966 T=0.00034
The PAGE Study Mexican Sub 10804 C=0.99972 T=0.00028
The PAGE Study Asian Sub 8310 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7916 C=0.9999 T=0.0001
The PAGE Study NativeHawaiian Sub 4524 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4228 C=0.9995 T=0.0005
The PAGE Study Dominican Sub 3824 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 852 C=1.000 T=0.000
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0000 A=0.0000, G=0.0000
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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 G T
GRCh38.p13 chr 1 NC_000001.11:g.17664557= NC_000001.11:g.17664557C>A NC_000001.11:g.17664557C>G NC_000001.11:g.17664557C>T
GRCh37.p13 chr 1 NC_000001.10:g.17991052T>C NC_000001.10:g.17991052T>A NC_000001.10:g.17991052T>G NC_000001.10:g.17991052=
ARHGEF10L RefSeqGene NG_050860.1:g.149361= NG_050860.1:g.149361C>A NG_050860.1:g.149361C>G NG_050860.1:g.149361C>T
ARHGEF10L transcript variant 1 NM_018125.4:c.2971= NM_018125.4:c.2971C>A NM_018125.4:c.2971C>G NM_018125.4:c.2971C>T
ARHGEF10L transcript variant 1 NM_018125.3:c.2971= NM_018125.3:c.2971C>A NM_018125.3:c.2971C>G NM_018125.3:c.2971C>T
ARHGEF10L transcript variant 6 NR_137287.2:n.4014= NR_137287.2:n.4014C>A NR_137287.2:n.4014C>G NR_137287.2:n.4014C>T
ARHGEF10L transcript variant 6 NR_137287.1:n.3877= NR_137287.1:n.3877C>A NR_137287.1:n.3877C>G NR_137287.1:n.3877C>T
ARHGEF10L transcript variant 7 NR_137288.2:n.3894= NR_137288.2:n.3894C>A NR_137288.2:n.3894C>G NR_137288.2:n.3894C>T
ARHGEF10L transcript variant 7 NR_137288.1:n.3757= NR_137288.1:n.3757C>A NR_137288.1:n.3757C>G NR_137288.1:n.3757C>T
ARHGEF10L transcript variant 2 NM_001011722.2:c.2854= NM_001011722.2:c.2854C>A NM_001011722.2:c.2854C>G NM_001011722.2:c.2854C>T
ARHGEF10L transcript variant 3 NM_001319837.1:c.2839= NM_001319837.1:c.2839C>A NM_001319837.1:c.2839C>G NM_001319837.1:c.2839C>T
ARHGEF10L transcript variant 5 NM_001328124.1:c.2305= NM_001328124.1:c.2305C>A NM_001328124.1:c.2305C>G NM_001328124.1:c.2305C>T
ARHGEF10L transcript variant 4 NM_001319838.1:c.2080= NM_001319838.1:c.2080C>A NM_001319838.1:c.2080C>G NM_001319838.1:c.2080C>T
ARHGEF10L transcript variant X15 XM_005245929.3:c.2290= XM_005245929.3:c.2290C>A XM_005245929.3:c.2290C>G XM_005245929.3:c.2290C>T
ARHGEF10L transcript variant X9 XM_005245929.1:c.2290T>C XM_005245929.1:c.2290T>A XM_005245929.1:c.2290T>G XM_005245929.1:c.2290=
ARHGEF10L transcript variant X13 XR_946686.3:n.2995= XR_946686.3:n.2995C>A XR_946686.3:n.2995C>G XR_946686.3:n.2995C>T
ARHGEF10L transcript variant X2 XM_005245923.2:c.2866= XM_005245923.2:c.2866C>A XM_005245923.2:c.2866C>G XM_005245923.2:c.2866C>T
ARHGEF10L transcript variant X3 XM_005245923.1:c.2866T>C XM_005245923.1:c.2866T>A XM_005245923.1:c.2866T>G XM_005245923.1:c.2866=
ARHGEF10L transcript variant X8 XM_011541691.2:c.2857= XM_011541691.2:c.2857C>A XM_011541691.2:c.2857C>G XM_011541691.2:c.2857C>T
ARHGEF10L transcript variant X10 XM_011541692.2:c.2851= XM_011541692.2:c.2851C>A XM_011541692.2:c.2851C>G XM_011541692.2:c.2851C>T
ARHGEF10L transcript variant X9 XM_005245925.2:c.2854= XM_005245925.2:c.2854C>A XM_005245925.2:c.2854C>G XM_005245925.2:c.2854C>T
ARHGEF10L transcript variant X5 XM_005245925.1:c.2854T>C XM_005245925.1:c.2854T>A XM_005245925.1:c.2854T>G XM_005245925.1:c.2854=
ARHGEF10L transcript variant X11 XM_011541693.2:c.2842= XM_011541693.2:c.2842C>A XM_011541693.2:c.2842C>G XM_011541693.2:c.2842C>T
ARHGEF10L transcript variant X17 XM_017001619.1:c.2866= XM_017001619.1:c.2866C>A XM_017001619.1:c.2866C>G XM_017001619.1:c.2866C>T
ARHGEF10L transcript variant X18 XM_017001620.1:c.2851= XM_017001620.1:c.2851C>A XM_017001620.1:c.2851C>G XM_017001620.1:c.2851C>T
ARHGEF10L transcript variant X23 XR_002956988.1:n.3617= XR_002956988.1:n.3617C>A XR_002956988.1:n.3617C>G XR_002956988.1:n.3617C>T
ARHGEF10L transcript variant X25 XR_002956989.1:n.3602= XR_002956989.1:n.3602C>A XR_002956989.1:n.3602C>G XR_002956989.1:n.3602C>T
ARHGEF10L transcript variant X1 XM_006710728.1:c.2866= XM_006710728.1:c.2866C>A XM_006710728.1:c.2866C>G XM_006710728.1:c.2866C>T
ARHGEF10L transcript variant X6 XM_006710731.1:c.2863= XM_006710731.1:c.2863C>A XM_006710731.1:c.2863C>G XM_006710731.1:c.2863C>T
ARHGEF10L transcript variant X26 XM_017001621.1:c.2971= XM_017001621.1:c.2971C>A XM_017001621.1:c.2971C>G XM_017001621.1:c.2971C>T
ARHGEF10L transcript variant X27 XM_017001622.1:c.2956= XM_017001622.1:c.2956C>A XM_017001622.1:c.2956C>G XM_017001622.1:c.2956C>T
ARHGEF10L transcript variant X3 XM_024448059.1:c.2866= XM_024448059.1:c.2866C>A XM_024448059.1:c.2866C>G XM_024448059.1:c.2866C>T
ARHGEF10L transcript variant X4 XM_024448061.1:c.2866= XM_024448061.1:c.2866C>A XM_024448061.1:c.2866C>G XM_024448061.1:c.2866C>T
ARHGEF10L transcript variant X7 XM_006710729.1:c.2863= XM_006710729.1:c.2863C>A XM_006710729.1:c.2863C>G XM_006710729.1:c.2863C>T
ARHGEF10L transcript variant X12 XM_017001617.1:c.2839= XM_017001617.1:c.2839C>A XM_017001617.1:c.2839C>G XM_017001617.1:c.2839C>T
ARHGEF10L transcript variant X5 XM_024448062.1:c.2866= XM_024448062.1:c.2866C>A XM_024448062.1:c.2866C>G XM_024448062.1:c.2866C>T
ARHGEF10L transcript variant X19 XR_001737277.1:n.2873= XR_001737277.1:n.2873C>A XR_001737277.1:n.2873C>G XR_001737277.1:n.2873C>T
ARHGEF10L transcript variant X14 XR_001737276.1:n.2996= XR_001737276.1:n.2996C>A XR_001737276.1:n.2996C>G XR_001737276.1:n.2996C>T
ARHGEF10L transcript variant X16 XM_017001618.1:c.2260= XM_017001618.1:c.2260C>A XM_017001618.1:c.2260C>G XM_017001618.1:c.2260C>T
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg991= NP_060595.3:p.Arg991= NP_060595.3:p.Arg991Gly NP_060595.3:p.Arg991Trp
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg952= NP_001011722.2:p.Arg952= NP_001011722.2:p.Arg952Gly NP_001011722.2:p.Arg952Trp
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg947= NP_001306766.1:p.Arg947= NP_001306766.1:p.Arg947Gly NP_001306766.1:p.Arg947Trp
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Arg769= NP_001315053.1:p.Arg769= NP_001315053.1:p.Arg769Gly NP_001315053.1:p.Arg769Trp
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Arg694= NP_001306767.1:p.Arg694= NP_001306767.1:p.Arg694Gly NP_001306767.1:p.Arg694Trp
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Arg764= XP_005245986.2:p.Arg764= XP_005245986.2:p.Arg764Gly XP_005245986.2:p.Arg764Trp
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg956= XP_005245980.2:p.Arg956= XP_005245980.2:p.Arg956Gly XP_005245980.2:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg953= XP_011539993.1:p.Arg953= XP_011539993.1:p.Arg953Gly XP_011539993.1:p.Arg953Trp
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg951= XP_011539994.1:p.Arg951= XP_011539994.1:p.Arg951Gly XP_011539994.1:p.Arg951Trp
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg952= XP_005245982.2:p.Arg952= XP_005245982.2:p.Arg952Gly XP_005245982.2:p.Arg952Trp
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg948= XP_011539995.1:p.Arg948= XP_011539995.1:p.Arg948Gly XP_011539995.1:p.Arg948Trp
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg956= XP_016857108.1:p.Arg956= XP_016857108.1:p.Arg956Gly XP_016857108.1:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg951= XP_016857109.1:p.Arg951= XP_016857109.1:p.Arg951Gly XP_016857109.1:p.Arg951Trp
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg956= XP_006710791.1:p.Arg956= XP_006710791.1:p.Arg956Gly XP_006710791.1:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg955= XP_006710794.1:p.Arg955= XP_006710794.1:p.Arg955Gly XP_006710794.1:p.Arg955Trp
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg991= XP_016857110.1:p.Arg991= XP_016857110.1:p.Arg991Gly XP_016857110.1:p.Arg991Trp
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg986= XP_016857111.1:p.Arg986= XP_016857111.1:p.Arg986Gly XP_016857111.1:p.Arg986Trp
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg956= XP_024303827.1:p.Arg956= XP_024303827.1:p.Arg956Gly XP_024303827.1:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg956= XP_024303829.1:p.Arg956= XP_024303829.1:p.Arg956Gly XP_024303829.1:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg955= XP_006710792.1:p.Arg955= XP_006710792.1:p.Arg955Gly XP_006710792.1:p.Arg955Trp
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg947= XP_016857106.1:p.Arg947= XP_016857106.1:p.Arg947Gly XP_016857106.1:p.Arg947Trp
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg956= XP_024303830.1:p.Arg956= XP_024303830.1:p.Arg956Gly XP_024303830.1:p.Arg956Trp
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Arg754= XP_016857107.1:p.Arg754= XP_016857107.1:p.Arg754Gly XP_016857107.1:p.Arg754Trp
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Trp956Arg XP_005245980.1:p.Trp956Arg XP_005245980.1:p.Trp956Gly XP_005245980.1:p.Trp956=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Trp952Arg XP_005245982.1:p.Trp952Arg XP_005245982.1:p.Trp952Gly XP_005245982.1:p.Trp952=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X9 XP_005245986.1:p.Trp764Arg XP_005245986.1:p.Trp764Arg XP_005245986.1:p.Trp764Gly XP_005245986.1:p.Trp764=
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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#.

106 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9888636 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16421131 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19123276 Feb 27, 2004 (120)
4 SSAHASNP ss20591923 Apr 05, 2004 (121)
5 ABI ss41263970 Mar 15, 2006 (126)
6 BCMHGSC_JDW ss87264591 Mar 23, 2008 (129)
7 HUMANGENOME_JCVI ss97922335 Feb 04, 2009 (130)
8 BGI ss105126443 Dec 01, 2009 (131)
9 1000GENOMES ss108025958 Jan 22, 2009 (130)
10 1000GENOMES ss110122892 Jan 24, 2009 (130)
11 ILLUMINA-UK ss118530933 Feb 14, 2009 (130)
12 ENSEMBL ss137822210 Dec 01, 2009 (131)
13 ENSEMBL ss139152085 Dec 01, 2009 (131)
14 GMI ss154706502 Dec 01, 2009 (131)
15 SEATTLESEQ ss159696411 Dec 01, 2009 (131)
16 ILLUMINA ss161043416 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163130991 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss163900989 Jul 04, 2010 (132)
19 ILLUMINA ss169005457 Jul 04, 2010 (132)
20 BUSHMAN ss198097455 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss205429700 Jul 04, 2010 (132)
22 1000GENOMES ss217314438 Jul 14, 2010 (132)
23 1000GENOMES ss217390892 Jul 14, 2010 (132)
24 1000GENOMES ss217392133 Jul 14, 2010 (132)
25 1000GENOMES ss217400011 Jul 14, 2010 (132)
26 1000GENOMES ss217410558 Jul 14, 2010 (132)
27 1000GENOMES ss217411067 Jul 14, 2010 (132)
28 1000GENOMES ss218260191 Jul 14, 2010 (132)
29 1000GENOMES ss230444736 Jul 14, 2010 (132)
30 1000GENOMES ss238156083 Jul 15, 2010 (132)
31 BL ss252952390 May 09, 2011 (134)
32 GMI ss275736187 May 04, 2012 (137)
33 GMI ss284010220 Apr 25, 2013 (138)
34 PJP ss290703119 May 09, 2011 (134)
35 NHLBI-ESP ss341939288 May 09, 2011 (134)
36 ILLUMINA ss479406936 Sep 08, 2015 (146)
37 1000GENOMES ss489724847 May 04, 2012 (137)
38 EXOME_CHIP ss491287928 May 04, 2012 (137)
39 CLINSEQ_SNP ss491587189 May 04, 2012 (137)
40 ILLUMINA ss532739607 Sep 08, 2015 (146)
41 TISHKOFF ss553844168 Apr 25, 2013 (138)
42 SSMP ss647610663 Apr 25, 2013 (138)
43 ILLUMINA ss780806683 Sep 08, 2015 (146)
44 ILLUMINA ss783488359 Sep 08, 2015 (146)
45 JMKIDD_LAB ss974433576 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1067417155 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067702819 Aug 21, 2014 (142)
48 1000GENOMES ss1289867486 Aug 21, 2014 (142)
49 DDI ss1425730861 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1573914517 Apr 01, 2015 (144)
51 EVA_FINRISK ss1584005286 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1599636743 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1642630776 Apr 01, 2015 (144)
54 EVA_EXAC ss1685351440 Apr 01, 2015 (144)
55 EVA_MGP ss1710892586 Apr 01, 2015 (144)
56 ILLUMINA ss1751884321 Sep 08, 2015 (146)
57 HAMMER_LAB ss1793989397 Sep 08, 2015 (146)
58 ILLUMINA ss1917723748 Feb 12, 2016 (147)
59 WEILL_CORNELL_DGM ss1918112746 Feb 12, 2016 (147)
60 ILLUMINA ss1945986417 Feb 12, 2016 (147)
61 ILLUMINA ss1958247735 Feb 12, 2016 (147)
62 GENOMED ss1966695086 Jul 19, 2016 (147)
63 JJLAB ss2019567664 Sep 14, 2016 (149)
64 USC_VALOUEV ss2147570014 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2160382239 Dec 20, 2016 (150)
66 TOPMED ss2322562914 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2624300125 Nov 08, 2017 (151)
68 GRF ss2697473821 Nov 08, 2017 (151)
69 GNOMAD ss2731192976 Nov 08, 2017 (151)
70 GNOMAD ss2746240092 Nov 08, 2017 (151)
71 GNOMAD ss2752196310 Nov 08, 2017 (151)
72 SWEGEN ss2986397178 Nov 08, 2017 (151)
73 ILLUMINA ss3021061017 Nov 08, 2017 (151)
74 TOPMED ss3069856659 Nov 08, 2017 (151)
75 CSHL ss3343346061 Nov 08, 2017 (151)
76 ILLUMINA ss3626037349 Oct 11, 2018 (152)
77 ILLUMINA ss3634309716 Oct 11, 2018 (152)
78 ILLUMINA ss3635985981 Oct 11, 2018 (152)
79 ILLUMINA ss3637740155 Oct 11, 2018 (152)
80 ILLUMINA ss3640017080 Oct 11, 2018 (152)
81 ILLUMINA ss3644482267 Oct 11, 2018 (152)
82 OMUKHERJEE_ADBS ss3646225702 Oct 11, 2018 (152)
83 ILLUMINA ss3651385523 Oct 11, 2018 (152)
84 ILLUMINA ss3725001227 Jul 12, 2019 (153)
85 ACPOP ss3726831929 Jul 12, 2019 (153)
86 ILLUMINA ss3744340430 Jul 12, 2019 (153)
87 ILLUMINA ss3744610679 Jul 12, 2019 (153)
88 EVA ss3745886176 Jul 12, 2019 (153)
89 PAGE_CC ss3770789337 Jul 12, 2019 (153)
90 ILLUMINA ss3772112260 Jul 12, 2019 (153)
91 PACBIO ss3783341086 Jul 12, 2019 (153)
92 PACBIO ss3789012458 Jul 12, 2019 (153)
93 PACBIO ss3793884919 Jul 12, 2019 (153)
94 EVA ss3823569196 Apr 25, 2020 (154)
95 EVA ss3825555490 Apr 25, 2020 (154)
96 EVA ss3826047777 Apr 25, 2020 (154)
97 EVA ss3836412035 Apr 25, 2020 (154)
98 SGDP_PRJ ss3848317189 Apr 25, 2020 (154)
99 KRGDB ss3893221167 Apr 25, 2020 (154)
100 FSA-LAB ss3983920000 Apr 27, 2021 (155)
101 FSA-LAB ss3983920001 Apr 27, 2021 (155)
102 EVA ss3984452965 Apr 27, 2021 (155)
103 EVA ss3986009365 Apr 27, 2021 (155)
104 EVA ss3986103713 Apr 27, 2021 (155)
105 TOPMED ss4440717944 Apr 27, 2021 (155)
106 TOMMO_GENOMICS ss5142733178 Apr 27, 2021 (155)
107 gnomAD - Genomes NC_000001.11 - 17664557 Apr 27, 2021 (155)
108 KOREAN population from KRGDB NC_000001.10 - 17991052 Apr 25, 2020 (154)
109 The PAGE Study NC_000001.11 - 17664557 Jul 12, 2019 (153)
110 TopMed NC_000001.11 - 17664557 Apr 27, 2021 (155)
111 ALFA NC_000001.11 - 17664557 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).

Associated ID History Updated (Build)
rs117515171 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
398561, ss3893221167 NC_000001.10:17991051:T:A NC_000001.11:17664556:C:A (self)
ss198097455 NC_000001.9:17863638:T:G NC_000001.11:17664556:C:G (self)
398561, ss3893221167 NC_000001.10:17991051:T:G NC_000001.11:17664556:C:G (self)
ss87264591, ss108025958, ss110122892, ss118530933, ss163130991, ss163900989, ss198097455, ss205429700, ss217314438, ss217390892, ss217392133, ss217400011, ss217410558, ss217411067, ss252952390, ss275736187, ss284010220, ss290703119, ss491587189 NC_000001.9:17863638:T:T NC_000001.11:17664556:C:T (self)
398561, ss218260191, ss230444736, ss238156083, ss341939288, ss479406936, ss489724847, ss491287928, ss532739607, ss553844168, ss647610663, ss780806683, ss783488359, ss974433576, ss1067417155, ss1067702819, ss1289867486, ss1425730861, ss1573914517, ss1584005286, ss1599636743, ss1642630776, ss1685351440, ss1710892586, ss1751884321, ss1793989397, ss1917723748, ss1918112746, ss1945986417, ss1958247735, ss1966695086, ss2019567664, ss2147570014, ss2322562914, ss2624300125, ss2697473821, ss2731192976, ss2746240092, ss2752196310, ss2986397178, ss3021061017, ss3343346061, ss3626037349, ss3634309716, ss3635985981, ss3637740155, ss3640017080, ss3644482267, ss3646225702, ss3651385523, ss3726831929, ss3744340430, ss3744610679, ss3745886176, ss3772112260, ss3783341086, ss3789012458, ss3793884919, ss3823569196, ss3825555490, ss3826047777, ss3836412035, ss3848317189, ss3893221167, ss3983920000, ss3983920001, ss3984452965, ss3986009365, ss3986103713, ss5142733178 NC_000001.10:17991051:T:T NC_000001.11:17664556:C:T (self)
3851006, 10806, 2714686, 4324279, 8414040972, ss2160382239, ss3069856659, ss3725001227, ss3770789337, ss4440717944 NC_000001.11:17664556:C:T NC_000001.11:17664556:C:T (self)
ss41263970, ss97922335, ss105126443, ss137822210, ss139152085, ss154706502, ss159696411, ss161043416, ss169005457 NT_004610.19:4671139:T:T NC_000001.11:17664556:C:T (self)
ss9888636 NT_030584.9:815393:T:T NC_000001.11:17664556:C:T (self)
ss16421131, ss19123276, ss20591923 NT_030584.10:815393:T:T NC_000001.11:17664556: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 rs6695710

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