rs759411189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759411189(-;-) |
Make rs759411189(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 33947258 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs759411189 |
dbSNP (classic) | rs759411189 |
ClinGen | rs759411189 |
ebi | rs759411189 |
HLI | rs759411189 |
Exac | rs759411189 |
Gnomad | rs759411189 |
Varsome | rs759411189 |
LitVar | rs759411189 |
Map | rs759411189 |
PheGenI | rs759411189 |
Biobank | rs759411189 |
1000 genomes | rs759411189 |
hgdp | rs759411189 |
ensembl | rs759411189 |
geneview | rs759411189 |
scholar | rs759411189 |
rs759411189 | |
pharmgkb | rs759411189 |
gwascentral | rs759411189 |
openSNP | rs759411189 |
23andMe | rs759411189 |
SNPshot | rs759411189 |
SNPdbe | rs759411189 |
MSV3d | rs759411189 |
GWAS Ctlg | rs759411189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759411189(-;-) |
Alt | rs759411189(-;-) |
Reference | Rs759411189(G;G) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.33947363delG |
CLNSRC | |
CLNACC | RCV000234810.1, |