rs775387808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775387808(-;-) |
Make rs775387808(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 33984320 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs775387808 |
dbSNP (classic) | rs775387808 |
ClinGen | rs775387808 |
ebi | rs775387808 |
HLI | rs775387808 |
Exac | rs775387808 |
Gnomad | rs775387808 |
Varsome | rs775387808 |
LitVar | rs775387808 |
Map | rs775387808 |
PheGenI | rs775387808 |
Biobank | rs775387808 |
1000 genomes | rs775387808 |
hgdp | rs775387808 |
ensembl | rs775387808 |
geneview | rs775387808 |
scholar | rs775387808 |
rs775387808 | |
pharmgkb | rs775387808 |
gwascentral | rs775387808 |
openSNP | rs775387808 |
23andMe | rs775387808 |
SNPshot | rs775387808 |
SNPdbe | rs775387808 |
MSV3d | rs775387808 |
GWAS Ctlg | rs775387808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775387808(-;-) |
Alt | rs775387808(-;-) |
Reference | Rs775387808(G;G) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.33984425delG |
CLNSRC | |
CLNACC | RCV000199265.1, |