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rs116840770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840770(C;T)
Make rs116840770(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965592
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840770
ebirs116840770
HLIrs116840770
Exacrs116840770
Varsomers116840770
Maprs116840770
PheGenIrs116840770
hapmaprs116840770
1000 genomesrs116840770
hgdprs116840770
ensemblrs116840770
gopubmedrs116840770
geneviewrs116840770
scholarrs116840770
googlers116840770
pharmgkbrs116840770
gwascentralrs116840770
openSNPrs116840770
23andMers116840770
23andMe allrs116840770
SNP Nexus

SNPshotrs116840770
SNPdbers116840770
MSV3drs116840770
GWAS Ctlgrs116840770
Max Magnitude0
ClinVar
Risk rs116840770(T;T)
Alt rs116840770(T;T)
Reference rs116840770(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005190G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031884.1,


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