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rs116840759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840759(-;-)
Make rs116840759(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966590
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840759
ebirs116840759
HLIrs116840759
Exacrs116840759
Varsomers116840759
Maprs116840759
PheGenIrs116840759
hapmaprs116840759
1000 genomesrs116840759
hgdprs116840759
ensemblrs116840759
gopubmedrs116840759
geneviewrs116840759
scholarrs116840759
googlers116840759
pharmgkbrs116840759
gwascentralrs116840759
openSNPrs116840759
23andMers116840759
23andMe allrs116840759
SNP Nexus

SNPshotrs116840759
SNPdbers116840759
MSV3drs116840759
GWAS Ctlgrs116840759
Max Magnitude0
ClinVar
Risk rs116840759(;)
Alt rs116840759(;)
Reference rs116840759(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42006188delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031874.1,


[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.