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rs121913137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913137(C;T)
Make rs121913137(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7152862
GeneINSR
is asnp
is mentioned by
dbSNPrs121913137
ebirs121913137
HLIrs121913137
Exacrs121913137
Varsomers121913137
Maprs121913137
PheGenIrs121913137
hapmaprs121913137
1000 genomesrs121913137
hgdprs121913137
ensemblrs121913137
gopubmedrs121913137
geneviewrs121913137
scholarrs121913137
googlers121913137
pharmgkbrs121913137
gwascentralrs121913137
openSNPrs121913137
23andMers121913137
23andMe allrs121913137
SNP Nexus

SNPshotrs121913137
SNPdbers121913137
MSV3drs121913137
GWAS Ctlgrs121913137
Max Magnitude0
OMIM147670
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913137(G,T;G,T)
Alt rs121913137(G,T;G,T)
Reference rs121913137(C;C)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7152873G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015796.28,