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rs116840753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs116840753(-;-)
Make rs116840753(-;C)
Make rs116840753(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967854
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840753
ebirs116840753
HLIrs116840753
Exacrs116840753
Varsomers116840753
Maprs116840753
PheGenIrs116840753
hapmaprs116840753
1000 genomesrs116840753
hgdprs116840753
ensemblrs116840753
gopubmedrs116840753
geneviewrs116840753
scholarrs116840753
googlers116840753
pharmgkbrs116840753
gwascentralrs116840753
openSNPrs116840753
23andMers116840753
23andMe allrs116840753
SNP Nexus

SNPshotrs116840753
SNPdbers116840753
MSV3drs116840753
GWAS Ctlgrs116840753
Max Magnitude0
ClinVar
Risk rs116840753(C;C)
Alt rs116840753(C;C)
Reference rs116840753(;)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007453dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031869.1,


[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.