rs749544685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs749544685(A;G) |
Make rs749544685(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 33944787 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs749544685 |
dbSNP (classic) | rs749544685 |
ClinGen | rs749544685 |
ebi | rs749544685 |
HLI | rs749544685 |
Exac | rs749544685 |
Gnomad | rs749544685 |
Varsome | rs749544685 |
LitVar | rs749544685 |
Map | rs749544685 |
PheGenI | rs749544685 |
Biobank | rs749544685 |
1000 genomes | rs749544685 |
hgdp | rs749544685 |
ensembl | rs749544685 |
geneview | rs749544685 |
scholar | rs749544685 |
rs749544685 | |
pharmgkb | rs749544685 |
gwascentral | rs749544685 |
openSNP | rs749544685 |
23andMe | rs749544685 |
SNPshot | rs749544685 |
SNPdbe | rs749544685 |
MSV3d | rs749544685 |
GWAS Ctlg | rs749544685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749544685(G;G) |
Alt | rs749544685(G;G) |
Reference | Rs749544685(A;A) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.33944892A>G |
CLNSRC | |
CLNACC | RCV000199265.1, |