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rs116840765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840765(-;-)
Make rs116840765(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966069
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840765
dbSNP (classic)rs116840765
ClinGenrs116840765
ebirs116840765
HLIrs116840765
Exacrs116840765
Gnomadrs116840765
Varsomers116840765
LitVarrs116840765
Maprs116840765
PheGenIrs116840765
Biobankrs116840765
1000 genomesrs116840765
hgdprs116840765
ensemblrs116840765
geneviewrs116840765
scholarrs116840765
googlers116840765
pharmgkbrs116840765
gwascentralrs116840765
openSNPrs116840765
23andMers116840765
SNPshotrs116840765
SNPdbers116840765
MSV3drs116840765
GWAS Ctlgrs116840765
Max Magnitude0
ClinVar
Risk rs116840765(-;-)
Alt rs116840765(-;-)
Reference Rs116840765(G;G)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005667delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000031880.1,