rs767907487
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs767907487(C;C) |
Make rs767907487(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 50791734 |
Gene | ACPT, LOC105372439 |
is a | snp |
is | mentioned by |
dbSNP | rs767907487 |
dbSNP (classic) | rs767907487 |
ClinGen | rs767907487 |
ebi | rs767907487 |
HLI | rs767907487 |
Exac | rs767907487 |
Gnomad | rs767907487 |
Varsome | rs767907487 |
LitVar | rs767907487 |
Map | rs767907487 |
PheGenI | rs767907487 |
Biobank | rs767907487 |
1000 genomes | rs767907487 |
hgdp | rs767907487 |
ensembl | rs767907487 |
geneview | rs767907487 |
scholar | rs767907487 |
rs767907487 | |
pharmgkb | rs767907487 |
gwascentral | rs767907487 |
openSNP | rs767907487 |
23andMe | rs767907487 |
SNPshot | rs767907487 |
SNPdbe | rs767907487 |
MSV3d | rs767907487 |
GWAS Ctlg | rs767907487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767907487(C;C) |
Alt | rs767907487(C;C) |
Reference | Rs767907487(G;G) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ACPT |
CLNDBN | Amelogenesis imperfecta, type IJ |
Reversed | 0 |
HGVS | NC_000019.9:g.51294991G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415614.1, |