rs546603773
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs546603773(C;T) |
Make rs546603773(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 50791780 |
Gene | ACPT, LOC105372439 |
is a | snp |
is | mentioned by |
dbSNP | rs546603773 |
dbSNP (classic) | rs546603773 |
ClinGen | rs546603773 |
ebi | rs546603773 |
HLI | rs546603773 |
Exac | rs546603773 |
Gnomad | rs546603773 |
Varsome | rs546603773 |
LitVar | rs546603773 |
Map | rs546603773 |
PheGenI | rs546603773 |
Biobank | rs546603773 |
1000 genomes | rs546603773 |
hgdp | rs546603773 |
ensembl | rs546603773 |
geneview | rs546603773 |
scholar | rs546603773 |
rs546603773 | |
pharmgkb | rs546603773 |
gwascentral | rs546603773 |
openSNP | rs546603773 |
23andMe | rs546603773 |
SNPshot | rs546603773 |
SNPdbe | rs546603773 |
MSV3d | rs546603773 |
GWAS Ctlg | rs546603773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs546603773(A;A) rs546603773(G;G) rs546603773(T;T) |
Alt | rs546603773(A;A) rs546603773(G;G) rs546603773(T;T) |
Reference | Rs546603773(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ACPT |
CLNDBN | Amelogenesis imperfecta, type IJ |
Reversed | 0 |
HGVS | NC_000019.9:g.51295037C>T |
CLNSRC | |
CLNACC | RCV000489568.1, |