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rs121913138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913138(G;T)
Make rs121913138(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7143072
GeneINSR
is asnp
is mentioned by
dbSNPrs121913138
dbSNP (classic)rs121913138
ClinGenrs121913138
ebirs121913138
HLIrs121913138
Exacrs121913138
Gnomadrs121913138
Varsomers121913138
LitVarrs121913138
Maprs121913138
PheGenIrs121913138
Biobankrs121913138
1000 genomesrs121913138
hgdprs121913138
ensemblrs121913138
geneviewrs121913138
scholarrs121913138
googlers121913138
pharmgkbrs121913138
gwascentralrs121913138
openSNPrs121913138
23andMers121913138
SNPshotrs121913138
SNPdbers121913138
MSV3drs121913138
GWAS Ctlgrs121913138
Max Magnitude0
OMIM147670
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913138(T;T)
Alt rs121913138(T;T)
Reference Rs121913138(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.7143083C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015798.29,