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rs121913152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913152(C;C)
Make rs121913152(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7267833
GeneINSR
is asnp
is mentioned by
dbSNPrs121913152
ebirs121913152
HLIrs121913152
Exacrs121913152
Varsomers121913152
Maprs121913152
PheGenIrs121913152
hapmaprs121913152
1000 genomesrs121913152
hgdprs121913152
ensemblrs121913152
gopubmedrs121913152
geneviewrs121913152
scholarrs121913152
googlers121913152
pharmgkbrs121913152
gwascentralrs121913152
openSNPrs121913152
23andMers121913152
23andMe allrs121913152
SNP Nexus

SNPshotrs121913152
SNPdbers121913152
MSV3drs121913152
GWAS Ctlgrs121913152
Max Magnitude0
OMIM147670
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121913152(C;C)
Alt rs121913152(C;C)
Reference rs121913152(T;T)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7267844A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015817.28,