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rs116840751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840751(C;T)
Make rs116840751(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967878
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840751
ebirs116840751
HLIrs116840751
Exacrs116840751
Varsomers116840751
Maprs116840751
PheGenIrs116840751
hapmaprs116840751
1000 genomesrs116840751
hgdprs116840751
ensemblrs116840751
gopubmedrs116840751
geneviewrs116840751
scholarrs116840751
googlers116840751
pharmgkbrs116840751
gwascentralrs116840751
openSNPrs116840751
23andMers116840751
23andMe allrs116840751
SNP Nexus

SNPshotrs116840751
SNPdbers116840751
MSV3drs116840751
GWAS Ctlgrs116840751
Max Magnitude0
ClinVar
Risk rs116840751(T;T)
Alt rs116840751(T;T)
Reference rs116840751(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007476G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031867.1,


[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.