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rs121913148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913148(A;A)
Make rs121913148(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7125482
GeneINSR
is asnp
is mentioned by
dbSNPrs121913148
dbSNP (classic)rs121913148
ClinGenrs121913148
ebirs121913148
HLIrs121913148
Exacrs121913148
Gnomadrs121913148
Varsomers121913148
LitVarrs121913148
Maprs121913148
PheGenIrs121913148
Biobankrs121913148
1000 genomesrs121913148
hgdprs121913148
ensemblrs121913148
geneviewrs121913148
scholarrs121913148
googlers121913148
pharmgkbrs121913148
gwascentralrs121913148
openSNPrs121913148
23andMers121913148
SNPshotrs121913148
SNPdbers121913148
MSV3drs121913148
GWAS Ctlgrs121913148
Max Magnitude0
OMIM147670
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121913148(A;A)
Alt rs121913148(A;A)
Reference Rs121913148(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.7125493C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015812.25,