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rs116840764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840764(-;-)
Make rs116840764(-;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966138
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840764
ebirs116840764
HLIrs116840764
Exacrs116840764
Varsomers116840764
Maprs116840764
PheGenIrs116840764
hapmaprs116840764
1000 genomesrs116840764
hgdprs116840764
ensemblrs116840764
gopubmedrs116840764
geneviewrs116840764
scholarrs116840764
googlers116840764
pharmgkbrs116840764
gwascentralrs116840764
openSNPrs116840764
23andMers116840764
23andMe allrs116840764
SNP Nexus

SNPshotrs116840764
SNPdbers116840764
MSV3drs116840764
GWAS Ctlgrs116840764
Max Magnitude0
ClinVar
Risk rs116840764(;)
Alt rs116840764(;)
Reference rs116840764(T;T)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005736delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000031879.1,


[PMID 12575661] Gene symbol: GLI3. Disease: Pallister-Hall syndrome.