Have questions? Visit https://www.reddit.com/r/SNPedia

rs116840752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840752(-;-)
Make rs116840752(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967870
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840752
ebirs116840752
HLIrs116840752
Exacrs116840752
Varsomers116840752
Maprs116840752
PheGenIrs116840752
hapmaprs116840752
1000 genomesrs116840752
hgdprs116840752
ensemblrs116840752
gopubmedrs116840752
geneviewrs116840752
scholarrs116840752
googlers116840752
pharmgkbrs116840752
gwascentralrs116840752
openSNPrs116840752
23andMers116840752
23andMe allrs116840752
SNP Nexus

SNPshotrs116840752
SNPdbers116840752
MSV3drs116840752
GWAS Ctlgrs116840752
Max Magnitude0
ClinVar
Risk rs116840752(;)
Alt rs116840752(;)
Reference rs116840752(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007468delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031868.1,


[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.