rs202073531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202073531(C;T) |
Make rs202073531(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 50791683 |
Gene | ACPT, LOC105372439 |
is a | snp |
is | mentioned by |
dbSNP | rs202073531 |
dbSNP (classic) | rs202073531 |
ClinGen | rs202073531 |
ebi | rs202073531 |
HLI | rs202073531 |
Exac | rs202073531 |
Gnomad | rs202073531 |
Varsome | rs202073531 |
LitVar | rs202073531 |
Map | rs202073531 |
PheGenI | rs202073531 |
Biobank | rs202073531 |
1000 genomes | rs202073531 |
hgdp | rs202073531 |
ensembl | rs202073531 |
geneview | rs202073531 |
scholar | rs202073531 |
rs202073531 | |
pharmgkb | rs202073531 |
gwascentral | rs202073531 |
openSNP | rs202073531 |
23andMe | rs202073531 |
SNPshot | rs202073531 |
SNPdbe | rs202073531 |
MSV3d | rs202073531 |
GWAS Ctlg | rs202073531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202073531(T;T) |
Alt | rs202073531(T;T) |
Reference | Rs202073531(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ACPT |
CLNDBN | Amelogenesis imperfecta, type IJ |
Reversed | 0 |
HGVS | NC_000019.9:g.51294940C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415543.1, |