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rs121913156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913156(A;A)
Make rs121913156(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7120677
GeneINSR
is asnp
is mentioned by
dbSNPrs121913156
dbSNP (classic)rs121913156
ClinGenrs121913156
ebirs121913156
HLIrs121913156
Exacrs121913156
Gnomadrs121913156
Varsomers121913156
LitVarrs121913156
Maprs121913156
PheGenIrs121913156
Biobankrs121913156
1000 genomesrs121913156
hgdprs121913156
ensemblrs121913156
geneviewrs121913156
scholarrs121913156
googlers121913156
pharmgkbrs121913156
gwascentralrs121913156
openSNPrs121913156
23andMers121913156
SNPshotrs121913156
SNPdbers121913156
MSV3drs121913156
GWAS Ctlgrs121913156
Merged fromRs28933086
Max Magnitude0
OMIM147670
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121913156(A;A)
Alt rs121913156(A;A)
Reference Rs121913156(G;G)
Significance Pathogenic
Disease Insulin-resistant diabetes mellitus AND acanthosis nigricans Hyperinsulinemic hypoglycemia familial 5
Variation info
Gene INSR
CLNDBN Insulin-resistant diabetes mellitus AND acanthosis nigricans Hyperinsulinemic hypoglycemia familial 5
Reversed 1
HGVS NC_000019.9:g.7120688C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015823.30, RCV000125461.5,