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rs116840748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840748(C;T)
Make rs116840748(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967917
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840748
ebirs116840748
HLIrs116840748
Exacrs116840748
Varsomers116840748
Maprs116840748
PheGenIrs116840748
hapmaprs116840748
1000 genomesrs116840748
hgdprs116840748
ensemblrs116840748
gopubmedrs116840748
geneviewrs116840748
scholarrs116840748
googlers116840748
pharmgkbrs116840748
gwascentralrs116840748
openSNPrs116840748
23andMers116840748
23andMe allrs116840748
SNP Nexus

SNPshotrs116840748
SNPdbers116840748
MSV3drs116840748
GWAS Ctlgrs116840748
Max Magnitude0
ClinVar
Risk rs116840748(T;T)
Alt rs116840748(T;T)
Reference rs116840748(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007515G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031864.1,


[PMID 15739154OA-icon.png] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.