rs929387
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs929387(C;T) |
Make rs929387(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 41966080 |
Gene | GLI3 |
is a | snp |
is | mentioned by |
dbSNP | rs929387 |
dbSNP (classic) | rs929387 |
ClinGen | rs929387 |
ebi | rs929387 |
HLI | rs929387 |
Exac | rs929387 |
Gnomad | rs929387 |
Varsome | rs929387 |
LitVar | rs929387 |
Map | rs929387 |
PheGenI | rs929387 |
Biobank | rs929387 |
1000 genomes | rs929387 |
hgdp | rs929387 |
ensembl | rs929387 |
geneview | rs929387 |
scholar | rs929387 |
rs929387 | |
pharmgkb | rs929387 |
gwascentral | rs929387 |
openSNP | rs929387 |
23andMe | rs929387 |
SNPshot | rs929387 |
SNPdbe | rs929387 |
MSV3d | rs929387 |
GWAS Ctlg | rs929387 |
GMAF | 0.4206 |
Max Magnitude | 0 |
? | (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 23549991] Candidate gene studies in hypodontia suggest role for FGF3.