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rs116840763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840763(C;G)
Make rs116840763(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966274
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840763
ebirs116840763
HLIrs116840763
Exacrs116840763
Varsomers116840763
Maprs116840763
PheGenIrs116840763
hapmaprs116840763
1000 genomesrs116840763
hgdprs116840763
ensemblrs116840763
gopubmedrs116840763
geneviewrs116840763
scholarrs116840763
googlers116840763
pharmgkbrs116840763
gwascentralrs116840763
openSNPrs116840763
23andMers116840763
23andMe allrs116840763
SNP Nexus

SNPshotrs116840763
SNPdbers116840763
MSV3drs116840763
GWAS Ctlgrs116840763
Max Magnitude0
ClinVar
Risk rs116840763(G;G)
Alt rs116840763(G;G)
Reference rs116840763(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005872G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031878.1,


[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.