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rs116840750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840750(C;T)
Make rs116840750(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967881
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840750
ebirs116840750
HLIrs116840750
Exacrs116840750
Varsomers116840750
Maprs116840750
PheGenIrs116840750
hapmaprs116840750
1000 genomesrs116840750
hgdprs116840750
ensemblrs116840750
gopubmedrs116840750
geneviewrs116840750
scholarrs116840750
googlers116840750
pharmgkbrs116840750
gwascentralrs116840750
openSNPrs116840750
23andMers116840750
23andMe allrs116840750
SNP Nexus

SNPshotrs116840750
SNPdbers116840750
MSV3drs116840750
GWAS Ctlgrs116840750
Max Magnitude0
ClinVar
Risk rs116840750(T;T)
Alt rs116840750(T;T)
Reference rs116840750(C;C)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007479G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031866.1,


[PMID 15739154OA-icon.png] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.