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rs116840745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840745(-;-)
Make rs116840745(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972408
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840745
ebirs116840745
HLIrs116840745
Exacrs116840745
Varsomers116840745
Maprs116840745
PheGenIrs116840745
hapmaprs116840745
1000 genomesrs116840745
hgdprs116840745
ensemblrs116840745
gopubmedrs116840745
geneviewrs116840745
scholarrs116840745
googlers116840745
pharmgkbrs116840745
gwascentralrs116840745
openSNPrs116840745
23andMers116840745
23andMe allrs116840745
SNP Nexus

SNPshotrs116840745
SNPdbers116840745
MSV3drs116840745
GWAS Ctlgrs116840745
Max Magnitude0
ClinVar
Risk rs116840745(;)
Alt rs116840745(;)
Reference rs116840745(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42012007delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000031861.1,


[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.