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rs116840766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840766(C;G)
Make rs116840766(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965749
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840766
ebirs116840766
HLIrs116840766
Exacrs116840766
Varsomers116840766
Maprs116840766
PheGenIrs116840766
hapmaprs116840766
1000 genomesrs116840766
hgdprs116840766
ensemblrs116840766
gopubmedrs116840766
geneviewrs116840766
scholarrs116840766
googlers116840766
pharmgkbrs116840766
gwascentralrs116840766
openSNPrs116840766
23andMers116840766
23andMe allrs116840766
SNP Nexus

SNPshotrs116840766
SNPdbers116840766
MSV3drs116840766
GWAS Ctlgrs116840766
Max Magnitude0
ClinVar
Risk rs116840766(G;G)
Alt rs116840766(G;G)
Reference rs116840766(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005347G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031881.1,


[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.