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

rs116840767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840767(-;-)
Make rs116840767(-;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965687
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840767
ebirs116840767
HLIrs116840767
Exacrs116840767
Varsomers116840767
Maprs116840767
PheGenIrs116840767
hapmaprs116840767
1000 genomesrs116840767
hgdprs116840767
ensemblrs116840767
gopubmedrs116840767
geneviewrs116840767
scholarrs116840767
googlers116840767
pharmgkbrs116840767
gwascentralrs116840767
openSNPrs116840767
23andMers116840767
23andMe allrs116840767
SNP Nexus

SNPshotrs116840767
SNPdbers116840767
MSV3drs116840767
GWAS Ctlgrs116840767
Max Magnitude0
ClinVar
Risk rs116840767(;)
Alt rs116840767(;)
Reference rs116840767(T;T)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005285delA
CLNSRC
CLNACC


[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.