rs886042344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 5 |
Position | 33951558 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs886042344 |
dbSNP (classic) | rs886042344 |
ClinGen | rs886042344 |
ebi | rs886042344 |
HLI | rs886042344 |
Exac | rs886042344 |
Gnomad | rs886042344 |
Varsome | rs886042344 |
LitVar | rs886042344 |
Map | rs886042344 |
PheGenI | rs886042344 |
Biobank | rs886042344 |
1000 genomes | rs886042344 |
hgdp | rs886042344 |
ensembl | rs886042344 |
geneview | rs886042344 |
scholar | rs886042344 |
rs886042344 | |
pharmgkb | rs886042344 |
gwascentral | rs886042344 |
openSNP | rs886042344 |
23andMe | rs886042344 |
SNPshot | rs886042344 |
SNPdbe | rs886042344 |
MSV3d | rs886042344 |
GWAS Ctlg | rs886042344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042344(C;C) |
Alt | rs886042344(C;C) |
Reference | Rs886042344(A;A) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.33951663A>C |
CLNSRC | |
CLNACC | RCV000292085.1, |