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rs121913140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913140(C;C)
Make rs121913140(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7119563
GeneINSR
is asnp
is mentioned by
dbSNPrs121913140
dbSNP (classic)rs121913140
ClinGenrs121913140
ebirs121913140
HLIrs121913140
Exacrs121913140
Gnomadrs121913140
Varsomers121913140
LitVarrs121913140
Maprs121913140
PheGenIrs121913140
Biobankrs121913140
1000 genomesrs121913140
hgdprs121913140
ensemblrs121913140
geneviewrs121913140
scholarrs121913140
googlers121913140
pharmgkbrs121913140
gwascentralrs121913140
openSNPrs121913140
23andMers121913140
SNPshotrs121913140
SNPdbers121913140
MSV3drs121913140
GWAS Ctlgrs121913140
Max Magnitude0
OMIM147670
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913140(C;C)
Alt rs121913140(C;C)
Reference Rs121913140(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.7119574C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015797.31,