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rs116840762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840762(-;-)
Make rs116840762(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966445
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840762
ebirs116840762
HLIrs116840762
Exacrs116840762
Varsomers116840762
Maprs116840762
PheGenIrs116840762
hapmaprs116840762
1000 genomesrs116840762
hgdprs116840762
ensemblrs116840762
gopubmedrs116840762
geneviewrs116840762
scholarrs116840762
googlers116840762
pharmgkbrs116840762
gwascentralrs116840762
openSNPrs116840762
23andMers116840762
23andMe allrs116840762
SNP Nexus

SNPshotrs116840762
SNPdbers116840762
MSV3drs116840762
GWAS Ctlgrs116840762
Max Magnitude0
ClinVar
Risk rs116840762(;)
Alt rs116840762(;)
Reference rs116840762(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42006043delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031877.1,


[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.