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rs116840746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs116840746(AT;AT)
Make rs116840746(AT;GG)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972381
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840746
ebirs116840746
HLIrs116840746
Exacrs116840746
Varsomers116840746
Maprs116840746
PheGenIrs116840746
hapmaprs116840746
1000 genomesrs116840746
hgdprs116840746
ensemblrs116840746
gopubmedrs116840746
geneviewrs116840746
scholarrs116840746
googlers116840746
pharmgkbrs116840746
gwascentralrs116840746
openSNPrs116840746
23andMers116840746
23andMe allrs116840746
SNP Nexus

SNPshotrs116840746
SNPdbers116840746
MSV3drs116840746
GWAS Ctlgrs116840746
Max Magnitude0
ClinVar
Risk rs116840746(AT;AT)
Alt rs116840746(AT;AT)
Reference rs116840746(GG;GG)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42011980_42011981delCCinsAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031862.1,


[PMID 15046066] Gene symbol: GLI3. Disease: Pallister-Hall syndrome.