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rs929387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs929387(C;T)
Make rs929387(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41966080
GeneGLI3
is asnp
is mentioned by
dbSNPrs929387
dbSNP (classic)rs929387
ClinGenrs929387
ebirs929387
HLIrs929387
Exacrs929387
Gnomadrs929387
Varsomers929387
LitVarrs929387
Maprs929387
PheGenIrs929387
Biobankrs929387
1000 genomesrs929387
hgdprs929387
ensemblrs929387
geneviewrs929387
scholarrs929387
googlers929387
pharmgkbrs929387
gwascentralrs929387
openSNPrs929387
23andMers929387
SNPshotrs929387
SNPdbers929387
MSV3drs929387
GWAS Ctlgrs929387
GMAF0.4206
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 22984994] A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population


ClinVar
Risk rs929387(T;T)
Alt rs929387(T;T)
Reference Rs929387(C;C)
Significance Non-pathogenic
Disease not specified Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN not specified Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42005678G>A
CLNSRC
CLNACC RCV000245039.2, RCV000274578.1, RCV000311017.1, RCV000366034.1,



[PMID 17029207] [Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus].


[PMID 23549991OA-icon.png] Candidate gene studies in hypodontia suggest role for FGF3.