rs104894469
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894469(A;A) |
Make rs104894469(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 36663043 |
Gene | LOC105370455, PAX9 |
is a | snp |
is | mentioned by |
dbSNP | rs104894469 |
dbSNP (classic) | rs104894469 |
ClinGen | rs104894469 |
ebi | rs104894469 |
HLI | rs104894469 |
Exac | rs104894469 |
Gnomad | rs104894469 |
Varsome | rs104894469 |
LitVar | rs104894469 |
Map | rs104894469 |
PheGenI | rs104894469 |
Biobank | rs104894469 |
1000 genomes | rs104894469 |
hgdp | rs104894469 |
ensembl | rs104894469 |
geneview | rs104894469 |
scholar | rs104894469 |
rs104894469 | |
pharmgkb | rs104894469 |
gwascentral | rs104894469 |
openSNP | rs104894469 |
23andMe | rs104894469 |
SNPshot | rs104894469 |
SNPdbe | rs104894469 |
MSV3d | rs104894469 |
GWAS Ctlg | rs104894469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894469(A;A) |
Alt | rs104894469(A;A) |
Reference | Rs104894469(G;G) |
Significance | Pathogenic |
Disease | Tooth agenesis |
Variation | info |
Gene | PAX9 |
CLNDBN | Tooth agenesis, selective, 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.37132248G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014789.26, |