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rs116840768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840768(G;T)
Make rs116840768(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41965634
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840768
ebirs116840768
HLIrs116840768
Exacrs116840768
Varsomers116840768
Maprs116840768
PheGenIrs116840768
hapmaprs116840768
1000 genomesrs116840768
hgdprs116840768
ensemblrs116840768
gopubmedrs116840768
geneviewrs116840768
scholarrs116840768
googlers116840768
pharmgkbrs116840768
gwascentralrs116840768
openSNPrs116840768
23andMers116840768
23andMe allrs116840768
SNP Nexus

SNPshotrs116840768
SNPdbers116840768
MSV3drs116840768
GWAS Ctlgrs116840768
Max Magnitude0
OMIM165240
Desc
Variant0006
Relatedalso
ClinVar
Risk rs116840768(C,T;C,T)
Alt rs116840768(C,T;C,T)
Reference rs116840768(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005232C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014829.29,


[PMID 10441570OA-icon.png] The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.