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rs116840761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840761(-;-)
Make rs116840761(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966453
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840761
ebirs116840761
HLIrs116840761
Exacrs116840761
Varsomers116840761
Maprs116840761
PheGenIrs116840761
hapmaprs116840761
1000 genomesrs116840761
hgdprs116840761
ensemblrs116840761
gopubmedrs116840761
geneviewrs116840761
scholarrs116840761
googlers116840761
pharmgkbrs116840761
gwascentralrs116840761
openSNPrs116840761
23andMers116840761
23andMe allrs116840761
SNP Nexus

SNPshotrs116840761
SNPdbers116840761
MSV3drs116840761
GWAS Ctlgrs116840761
Max Magnitude0
ClinVar
Risk rs116840761(;)
Alt rs116840761(;)
Reference rs116840761(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42006051delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031876.1,


[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.