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rs116840747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840747(G;T)
Make rs116840747(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972378
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840747
ebirs116840747
HLIrs116840747
Exacrs116840747
Varsomers116840747
Maprs116840747
PheGenIrs116840747
hapmaprs116840747
1000 genomesrs116840747
hgdprs116840747
ensemblrs116840747
gopubmedrs116840747
geneviewrs116840747
scholarrs116840747
googlers116840747
pharmgkbrs116840747
gwascentralrs116840747
openSNPrs116840747
23andMers116840747
23andMe allrs116840747
SNP Nexus

SNPshotrs116840747
SNPdbers116840747
MSV3drs116840747
GWAS Ctlgrs116840747
Max Magnitude0
ClinVar
Risk rs116840747(T;T)
Alt rs116840747(T;T)
Reference rs116840747(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42011977C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031863.1,


[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.