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rs281864935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs281864935(-;-)
Make rs281864935(-;TT)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965686
GeneGLI3
is asnp
is mentioned by
dbSNPrs281864935
ebirs281864935
HLIrs281864935
Exacrs281864935
Varsomers281864935
Maprs281864935
PheGenIrs281864935
hapmaprs281864935
1000 genomesrs281864935
hgdprs281864935
ensemblrs281864935
gopubmedrs281864935
geneviewrs281864935
scholarrs281864935
googlers281864935
pharmgkbrs281864935
gwascentralrs281864935
openSNPrs281864935
23andMers281864935
23andMe allrs281864935
SNP Nexus

SNPshotrs281864935
SNPdbers281864935
MSV3drs281864935
GWAS Ctlgrs281864935
Max Magnitude0
ClinVar
Risk rs281864935(;)
Alt rs281864935(;)
Reference rs281864935(TT;TT)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005284_42005285delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000031882.1,