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rs116840742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGAC;CGAC) 0 common in clinvar
Make rs116840742(-;-)
Make rs116840742(-;CCGA)
Make rs116840742(CCGA;CCGA)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972439
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840742
ebirs116840742
HLIrs116840742
Exacrs116840742
Varsomers116840742
Maprs116840742
PheGenIrs116840742
hapmaprs116840742
1000 genomesrs116840742
hgdprs116840742
ensemblrs116840742
gopubmedrs116840742
geneviewrs116840742
scholarrs116840742
googlers116840742
pharmgkbrs116840742
gwascentralrs116840742
openSNPrs116840742
23andMers116840742
23andMe allrs116840742
SNP Nexus

SNPshotrs116840742
SNPdbers116840742
MSV3drs116840742
GWAS Ctlgrs116840742
Max Magnitude0
ClinVar
Risk rs116840742(;)
Alt rs116840742(;)
Reference rs116840742(CGAC;CGAC)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42012038_42012041delTCGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031860.1,


[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.