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rs121913151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913151(C;T)
Make rs121913151(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7172363
GeneINSR
is asnp
is mentioned by
dbSNPrs121913151
ebirs121913151
HLIrs121913151
Exacrs121913151
Varsomers121913151
Maprs121913151
PheGenIrs121913151
hapmaprs121913151
1000 genomesrs121913151
hgdprs121913151
ensemblrs121913151
gopubmedrs121913151
geneviewrs121913151
scholarrs121913151
googlers121913151
pharmgkbrs121913151
gwascentralrs121913151
openSNPrs121913151
23andMers121913151
23andMe allrs121913151
SNP Nexus

SNPshotrs121913151
SNPdbers121913151
MSV3drs121913151
GWAS Ctlgrs121913151
Max Magnitude0
OMIM147670
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121913151(T;T)
Alt rs121913151(T;T)
Reference rs121913151(C;C)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7172374G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015816.24,