rs28933972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933972(C;T) |
Make rs28933972(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 36662968 |
Gene | LOC105370455, PAX9 |
is a | snp |
is | mentioned by |
dbSNP | rs28933972 |
dbSNP (classic) | rs28933972 |
ClinGen | rs28933972 |
ebi | rs28933972 |
HLI | rs28933972 |
Exac | rs28933972 |
Gnomad | rs28933972 |
Varsome | rs28933972 |
LitVar | rs28933972 |
Map | rs28933972 |
PheGenI | rs28933972 |
Biobank | rs28933972 |
1000 genomes | rs28933972 |
hgdp | rs28933972 |
ensembl | rs28933972 |
geneview | rs28933972 |
scholar | rs28933972 |
rs28933972 | |
pharmgkb | rs28933972 |
gwascentral | rs28933972 |
openSNP | rs28933972 |
23andMe | rs28933972 |
SNPshot | rs28933972 |
SNPdbe | rs28933972 |
MSV3d | rs28933972 |
GWAS Ctlg | rs28933972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933972(T;T) |
Alt | rs28933972(T;T) |
Reference | Rs28933972(C;C) |
Significance | Pathogenic |
Disease | Tooth agenesis |
Variation | info |
Gene | PAX9 |
CLNDBN | Tooth agenesis, selective, 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.37132173C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014784.23, |