Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917713(C;T)
Make rs121917713(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position42040198
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917713
ebirs121917713
HLIrs121917713
Exacrs121917713
Varsomers121917713
Maprs121917713
PheGenIrs121917713
hapmaprs121917713
1000 genomesrs121917713
hgdprs121917713
ensemblrs121917713
gopubmedrs121917713
geneviewrs121917713
scholarrs121917713
googlers121917713
pharmgkbrs121917713
gwascentralrs121917713
openSNPrs121917713
23andMers121917713
23andMe allrs121917713
SNP Nexus

SNPshotrs121917713
SNPdbers121917713
MSV3drs121917713
GWAS Ctlgrs121917713
Max Magnitude0
OMIM165240
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121917713(T;T)
Alt rs121917713(T;T)
Reference rs121917713(C;C)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome Preaxial polydactyly 4
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome Preaxial polydactyly 4
Reversed 1
HGVS NC_000007.13:g.42079797G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014837.27, RCV000014838.23,