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rs515071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515071(C;C)
Make rs515071(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position41661944
GeneANK1, MIR486-1
is asnp
is mentioned by
dbSNPrs515071
dbSNP (classic)rs515071
ClinGenrs515071
ebirs515071
HLIrs515071
Exacrs515071
Gnomadrs515071
Varsomers515071
LitVarrs515071
Maprs515071
PheGenIrs515071
Biobankrs515071
1000 genomesrs515071
hgdprs515071
ensemblrs515071
geneviewrs515071
scholarrs515071
googlers515071
pharmgkbrs515071
gwascentralrs515071
openSNPrs515071
23andMers515071
SNPshotrs515071
SNPdbers515071
MSV3drs515071
GWAS Ctlgrs515071
GMAF0.2222
Max Magnitude0
? (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 28912869OA-icon.png] Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China.