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rs116840757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACAA;AACAA) 0 common in clinvar
Make rs116840757(-;-)
Make rs116840757(-;AACAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967672
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840757
ebirs116840757
HLIrs116840757
Exacrs116840757
Varsomers116840757
Maprs116840757
PheGenIrs116840757
hapmaprs116840757
1000 genomesrs116840757
hgdprs116840757
ensemblrs116840757
gopubmedrs116840757
geneviewrs116840757
scholarrs116840757
googlers116840757
pharmgkbrs116840757
gwascentralrs116840757
openSNPrs116840757
23andMers116840757
23andMe allrs116840757
SNP Nexus

SNPshotrs116840757
SNPdbers116840757
MSV3drs116840757
GWAS Ctlgrs116840757
Max Magnitude0
ClinVar
Risk rs116840757(;)
Alt rs116840757(;)
Reference rs116840757(AACAA;AACAA)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007270_42007274delTTGTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031872.1,


[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.