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rs121917711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917711(G;T)
Make rs121917711(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41978619
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917711
ebirs121917711
HLIrs121917711
Exacrs121917711
Varsomers121917711
Maprs121917711
PheGenIrs121917711
hapmaprs121917711
1000 genomesrs121917711
hgdprs121917711
ensemblrs121917711
gopubmedrs121917711
geneviewrs121917711
scholarrs121917711
googlers121917711
pharmgkbrs121917711
gwascentralrs121917711
openSNPrs121917711
23andMers121917711
23andMe allrs121917711
SNP Nexus

SNPshotrs121917711
SNPdbers121917711
MSV3drs121917711
GWAS Ctlgrs121917711
Max Magnitude0
OMIM165240
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121917711(T;T)
Alt rs121917711(T;T)
Reference rs121917711(G;G)
Significance Pathogenic
Disease Greig cephalopolysyndactyly syndrome
Variation info
Gene GLI3
CLNDBN Greig cephalopolysyndactyly syndrome
Reversed 1
HGVS NC_000007.13:g.42018218C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014833.26,