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rs121917712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917712(C;T)
Make rs121917712(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972567
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917712
ebirs121917712
HLIrs121917712
Exacrs121917712
Varsomers121917712
Maprs121917712
PheGenIrs121917712
hapmaprs121917712
1000 genomesrs121917712
hgdprs121917712
ensemblrs121917712
gopubmedrs121917712
geneviewrs121917712
scholarrs121917712
googlers121917712
pharmgkbrs121917712
gwascentralrs121917712
openSNPrs121917712
23andMers121917712
23andMe allrs121917712
SNP Nexus

SNPshotrs121917712
SNPdbers121917712
MSV3drs121917712
GWAS Ctlgrs121917712
Max Magnitude0
OMIM165240
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121917712(T;T)
Alt rs121917712(T;T)
Reference rs121917712(C;C)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome
Reversed 1
HGVS NC_000007.13:g.42012166G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014835.27,