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rs121917715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917715(C;T)
Make rs121917715(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position42023479
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917715
dbSNP (old)rs121917715
ClinGenrs121917715
ebirs121917715
HLIrs121917715
Exacrs121917715
Gnomadrs121917715
Varsomers121917715
Maprs121917715
PheGenIrs121917715
Biobankrs121917715
1000 genomesrs121917715
hgdprs121917715
ensemblrs121917715
gopubmedrs121917715
geneviewrs121917715
scholarrs121917715
googlers121917715
pharmgkbrs121917715
gwascentralrs121917715
openSNPrs121917715
23andMers121917715
23andMe allrs121917715
SNP Nexus

SNPshotrs121917715
SNPdbers121917715
MSV3drs121917715
GWAS Ctlgrs121917715
Max Magnitude0
OMIM165240
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121917715(T;T)
Alt rs121917715(T;T)
Reference Rs121917715(C;C)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome
Reversed 1
HGVS NC_000007.13:g.42063078G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014842.27,