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rs116840769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840769(G;T)
Make rs116840769(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965617
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840769
ebirs116840769
HLIrs116840769
Exacrs116840769
Varsomers116840769
Maprs116840769
PheGenIrs116840769
hapmaprs116840769
1000 genomesrs116840769
hgdprs116840769
ensemblrs116840769
gopubmedrs116840769
geneviewrs116840769
scholarrs116840769
googlers116840769
pharmgkbrs116840769
gwascentralrs116840769
openSNPrs116840769
23andMers116840769
23andMe allrs116840769
SNP Nexus

SNPshotrs116840769
SNPdbers116840769
MSV3drs116840769
GWAS Ctlgrs116840769
Max Magnitude0
ClinVar
Risk rs116840769(T;T)
Alt rs116840769(T;T)
Reference rs116840769(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005215C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031883.1,


[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.