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rs116840743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840743(-;-)
Make rs116840743(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972428
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840743
ebirs116840743
HLIrs116840743
Exacrs116840743
Varsomers116840743
Maprs116840743
PheGenIrs116840743
hapmaprs116840743
1000 genomesrs116840743
hgdprs116840743
ensemblrs116840743
gopubmedrs116840743
geneviewrs116840743
scholarrs116840743
googlers116840743
pharmgkbrs116840743
gwascentralrs116840743
openSNPrs116840743
23andMers116840743
23andMe allrs116840743
SNP Nexus

SNPshotrs116840743
SNPdbers116840743
MSV3drs116840743
GWAS Ctlgrs116840743
Max Magnitude0
OMIM165240
Desc
Variant0003
Relatedalso
ClinVar
Risk rs116840743(;)
Alt rs116840743(;)
Reference rs116840743(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42012027delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014826.24,


[PMID 9054938] GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.


[PMID 9192261OA-icon.png] Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.