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rs116840756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTAAAACAAG;GCTAAAACAAG) 0 common in clinvar
Make rs116840756(-;-)
Make rs116840756(-;GCTAAAACAAG)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967671
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840756
ebirs116840756
HLIrs116840756
Exacrs116840756
Varsomers116840756
Maprs116840756
PheGenIrs116840756
hapmaprs116840756
1000 genomesrs116840756
hgdprs116840756
ensemblrs116840756
gopubmedrs116840756
geneviewrs116840756
scholarrs116840756
googlers116840756
pharmgkbrs116840756
gwascentralrs116840756
openSNPrs116840756
23andMers116840756
23andMe allrs116840756
SNP Nexus

SNPshotrs116840756
SNPdbers116840756
MSV3drs116840756
GWAS Ctlgrs116840756
Max Magnitude0
ClinVar
Risk rs116840756(;)
Alt rs116840756(;)
Reference rs116840756(GCTAAAACAAG;GCTAAAACAAG)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007269_42007279delCTTGTTTTAGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000031871.1,


[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.