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rs121913144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913144(C;T)
Make rs121913144(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7125462
GeneINSR
is asnp
is mentioned by
dbSNPrs121913144
ebirs121913144
HLIrs121913144
Exacrs121913144
Varsomers121913144
Maprs121913144
PheGenIrs121913144
hapmaprs121913144
1000 genomesrs121913144
hgdprs121913144
ensemblrs121913144
gopubmedrs121913144
geneviewrs121913144
scholarrs121913144
googlers121913144
pharmgkbrs121913144
gwascentralrs121913144
openSNPrs121913144
23andMers121913144
23andMe allrs121913144
SNP Nexus

SNPshotrs121913144
SNPdbers121913144
MSV3drs121913144
GWAS Ctlgrs121913144
Merged fromRs121913149
Max Magnitude0
OMIM147670
Desc
Variant0013
Relatedalso
OMIM147670
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121913144(T;T)
Alt rs121913144(T;T)
Reference rs121913144(C;C)
Significance Pathogenic
Disease Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans
Variation info
Gene INSR
CLNDBN Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans
Reversed 1
HGVS NC_000019.9:g.7125473G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015807.24, RCV000128412.3,