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rs121913135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913135(G;T)
Make rs121913135(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7125437
GeneINSR
is asnp
is mentioned by
dbSNPrs121913135
dbSNP (classic)rs121913135
ClinGenrs121913135
ebirs121913135
HLIrs121913135
Exacrs121913135
Gnomadrs121913135
Varsomers121913135
LitVarrs121913135
Maprs121913135
PheGenIrs121913135
Biobankrs121913135
1000 genomesrs121913135
hgdprs121913135
ensemblrs121913135
geneviewrs121913135
scholarrs121913135
googlers121913135
pharmgkbrs121913135
gwascentralrs121913135
openSNPrs121913135
23andMers121913135
SNPshotrs121913135
SNPdbers121913135
MSV3drs121913135
GWAS Ctlgrs121913135
Max Magnitude0
OMIM147670
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913135(T;T)
Alt rs121913135(T;T)
Reference Rs121913135(G;G)
Significance Pathogenic
Disease Insulin-resistant diabetes mellitus AND acanthosis nigricans
Variation info
Gene INSR
CLNDBN Insulin-resistant diabetes mellitus AND acanthosis nigricans
Reversed 1
HGVS NC_000019.9:g.7125448C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015793.29,