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rs121913147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913147(A;G)
Make rs121913147(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7170554
GeneINSR
is asnp
is mentioned by
dbSNPrs121913147
dbSNP (classic)rs121913147
ClinGenrs121913147
ebirs121913147
HLIrs121913147
Exacrs121913147
Gnomadrs121913147
Varsomers121913147
LitVarrs121913147
Maprs121913147
PheGenIrs121913147
Biobankrs121913147
1000 genomesrs121913147
hgdprs121913147
ensemblrs121913147
geneviewrs121913147
scholarrs121913147
googlers121913147
pharmgkbrs121913147
gwascentralrs121913147
openSNPrs121913147
23andMers121913147
SNPshotrs121913147
SNPdbers121913147
MSV3drs121913147
GWAS Ctlgrs121913147
Merged fromRs28933085
Max Magnitude0
OMIM147670
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913147(G;G)
Alt rs121913147(G;G)
Reference Rs121913147(A;A)
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.7170565T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015810.25,