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rs116840749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840749(-;-)
Make rs116840749(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967888
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840749
ebirs116840749
HLIrs116840749
Exacrs116840749
Varsomers116840749
Maprs116840749
PheGenIrs116840749
hapmaprs116840749
1000 genomesrs116840749
hgdprs116840749
ensemblrs116840749
gopubmedrs116840749
geneviewrs116840749
scholarrs116840749
googlers116840749
pharmgkbrs116840749
gwascentralrs116840749
openSNPrs116840749
23andMers116840749
23andMe allrs116840749
SNP Nexus

SNPshotrs116840749
SNPdbers116840749
MSV3drs116840749
GWAS Ctlgrs116840749
Max Magnitude0
ClinVar
Risk rs116840749(;)
Alt rs116840749(;)
Reference rs116840749(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007486delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031865.1,


[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.