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rs121917716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917716(C;T)
Make rs121917716(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967908
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917716
ebirs121917716
HLIrs121917716
Exacrs121917716
Varsomers121917716
Maprs121917716
PheGenIrs121917716
hapmaprs121917716
1000 genomesrs121917716
hgdprs121917716
ensemblrs121917716
gopubmedrs121917716
geneviewrs121917716
scholarrs121917716
googlers121917716
pharmgkbrs121917716
gwascentralrs121917716
openSNPrs121917716
23andMers121917716
23andMe allrs121917716
SNP Nexus

SNPshotrs121917716
SNPdbers121917716
MSV3drs121917716
GWAS Ctlgrs121917716
Max Magnitude0
OMIM165240
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121917716(T;T)
Alt rs121917716(T;T)
Reference rs121917716(C;C)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome
Reversed 1
HGVS NC_000007.13:g.42007506G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014843.26,