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rs116840760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840760(A;A)
Make rs116840760(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966506
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840760
ebirs116840760
HLIrs116840760
Exacrs116840760
Varsomers116840760
Maprs116840760
PheGenIrs116840760
hapmaprs116840760
1000 genomesrs116840760
hgdprs116840760
ensemblrs116840760
gopubmedrs116840760
geneviewrs116840760
scholarrs116840760
googlers116840760
pharmgkbrs116840760
gwascentralrs116840760
openSNPrs116840760
23andMers116840760
23andMe allrs116840760
SNP Nexus

SNPshotrs116840760
SNPdbers116840760
MSV3drs116840760
GWAS Ctlgrs116840760
Max Magnitude0
ClinVar
Risk rs116840760(A;A)
Alt rs116840760(A;A)
Reference rs116840760(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42006104G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031875.1,


[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.