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rs121917714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917714(C;T)
Make rs121917714(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967653
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917714
ebirs121917714
HLIrs121917714
Exacrs121917714
Varsomers121917714
Maprs121917714
PheGenIrs121917714
hapmaprs121917714
1000 genomesrs121917714
hgdprs121917714
ensemblrs121917714
gopubmedrs121917714
geneviewrs121917714
scholarrs121917714
googlers121917714
pharmgkbrs121917714
gwascentralrs121917714
openSNPrs121917714
23andMers121917714
23andMe allrs121917714
SNP Nexus

SNPshotrs121917714
SNPdbers121917714
MSV3drs121917714
GWAS Ctlgrs121917714
Max Magnitude0
OMIM165240
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121917714(T;T)
Alt rs121917714(T;T)
Reference rs121917714(C;C)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome
Reversed 1
HGVS NC_000007.13:g.42007251G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014840.27,