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rs116840755

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs116840755(-;-)
Make rs116840755(-;AC)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967829
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840755
ebirs116840755
HLIrs116840755
Exacrs116840755
Varsomers116840755
Maprs116840755
PheGenIrs116840755
hapmaprs116840755
1000 genomesrs116840755
hgdprs116840755
ensemblrs116840755
gopubmedrs116840755
geneviewrs116840755
scholarrs116840755
googlers116840755
pharmgkbrs116840755
gwascentralrs116840755
openSNPrs116840755
23andMers116840755
23andMe allrs116840755
SNP Nexus

SNPshotrs116840755
SNPdbers116840755
MSV3drs116840755
GWAS Ctlgrs116840755
Max Magnitude0
ClinVar
Risk rs116840755(;)
Alt rs116840755(;)
Reference rs116840755(AC;AC)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007427_42007428delGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031870.1,


[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.