rs515071
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs515071(C;C) |
Make rs515071(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 41661944 |
Gene | ANK1, MIR486-1 |
is a | snp |
is | mentioned by |
dbSNP | rs515071 |
dbSNP (classic) | rs515071 |
ClinGen | rs515071 |
ebi | rs515071 |
HLI | rs515071 |
Exac | rs515071 |
Gnomad | rs515071 |
Varsome | rs515071 |
LitVar | rs515071 |
Map | rs515071 |
PheGenI | rs515071 |
Biobank | rs515071 |
1000 genomes | rs515071 |
hgdp | rs515071 |
ensembl | rs515071 |
geneview | rs515071 |
scholar | rs515071 |
rs515071 | |
pharmgkb | rs515071 |
gwascentral | rs515071 |
openSNP | rs515071 |
23andMe | rs515071 |
SNPshot | rs515071 |
SNPdbe | rs515071 |
MSV3d | rs515071 |
GWAS Ctlg | rs515071 |
GMAF | 0.2222 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 22456796] |
Trait | |
Title | A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations. |
Risk Allele | |
P-val | 1E-8 |
Odds Ratio | 1.1800 None |
ClinVar | |
---|---|
Risk | rs515071(A;A) rs515071(C;C) |
Alt | rs515071(A;A) rs515071(C;C) |
Reference | Rs515071(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Spherocytosis |
Variation | info |
Gene | ANK1 MIR486-1 |
CLNDBN | not specified Spherocytosis, Dominant |
Reversed | 1 |
HGVS | NC_000008.10:g.41519462A>G |
CLNSRC | |
CLNACC | RCV000248795.1, RCV000357712.1, |
[PMID 28912869] Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China.