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rs116840744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840744(-;-)
Make rs116840744(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972417
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840744
ebirs116840744
HLIrs116840744
Exacrs116840744
Varsomers116840744
Maprs116840744
PheGenIrs116840744
hapmaprs116840744
1000 genomesrs116840744
hgdprs116840744
ensemblrs116840744
gopubmedrs116840744
geneviewrs116840744
scholarrs116840744
googlers116840744
pharmgkbrs116840744
gwascentralrs116840744
openSNPrs116840744
23andMers116840744
23andMe allrs116840744
SNP Nexus

SNPshotrs116840744
SNPdbers116840744
MSV3drs116840744
GWAS Ctlgrs116840744
Max Magnitude0
OMIM165240
Desc
Variant0002
Relatedalso
ClinVar
Risk rs116840744(;)
Alt rs116840744(;)
Reference rs116840744(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42012016delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014825.28,


[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.