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

rs116840758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840758(A;A)
Make rs116840758(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967595
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840758
ebirs116840758
HLIrs116840758
Exacrs116840758
Varsomers116840758
Maprs116840758
PheGenIrs116840758
hapmaprs116840758
1000 genomesrs116840758
hgdprs116840758
ensemblrs116840758
gopubmedrs116840758
geneviewrs116840758
scholarrs116840758
googlers116840758
pharmgkbrs116840758
gwascentralrs116840758
openSNPrs116840758
23andMers116840758
23andMe allrs116840758
SNP Nexus

SNPshotrs116840758
SNPdbers116840758
MSV3drs116840758
GWAS Ctlgrs116840758
Max Magnitude0
ClinVar
Risk rs116840758(A;A)
Alt rs116840758(A;A)
Reference rs116840758(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007193C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031873.1,


[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.