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rs121913139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913139(A;A)
Make rs121913139(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7122662
GeneINSR
is asnp
is mentioned by
dbSNPrs121913139
dbSNP (classic)rs121913139
ClinGenrs121913139
ebirs121913139
HLIrs121913139
Exacrs121913139
Gnomadrs121913139
Varsomers121913139
LitVarrs121913139
Maprs121913139
PheGenIrs121913139
Biobankrs121913139
1000 genomesrs121913139
hgdprs121913139
ensemblrs121913139
geneviewrs121913139
scholarrs121913139
googlers121913139
pharmgkbrs121913139
gwascentralrs121913139
openSNPrs121913139
23andMers121913139
SNPshotrs121913139
SNPdbers121913139
MSV3drs121913139
GWAS Ctlgrs121913139
Merged fromRs28933084
Max Magnitude0
OMIM147670
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913139(A;A)
Alt rs121913139(A;A)
Reference Rs121913139(G;G)
Significance Pathogenic
Disease Insulin-resistant diabetes mellitus AND acanthosis nigricans Insulin resistance
Variation info
Gene INSR
CLNDBN Insulin-resistant diabetes mellitus AND acanthosis nigricans Insulin resistance
Reversed 1
HGVS NC_000019.9:g.7122673C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015801.29, RCV000015802.29,