rs794727511
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727511(C;T) |
Make rs794727511(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 33963723 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs794727511 |
dbSNP (classic) | rs794727511 |
ClinGen | rs794727511 |
ebi | rs794727511 |
HLI | rs794727511 |
Exac | rs794727511 |
Gnomad | rs794727511 |
Varsome | rs794727511 |
LitVar | rs794727511 |
Map | rs794727511 |
PheGenI | rs794727511 |
Biobank | rs794727511 |
1000 genomes | rs794727511 |
hgdp | rs794727511 |
ensembl | rs794727511 |
geneview | rs794727511 |
scholar | rs794727511 |
rs794727511 | |
pharmgkb | rs794727511 |
gwascentral | rs794727511 |
openSNP | rs794727511 |
23andMe | rs794727511 |
SNPshot | rs794727511 |
SNPdbe | rs794727511 |
MSV3d | rs794727511 |
GWAS Ctlg | rs794727511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727511(T;T) |
Alt | rs794727511(T;T) |
Reference | Rs794727511(C;C) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 1 |
HGVS | NC_000005.9:g.33963828G>A |
CLNSRC | |
CLNACC | RCV000177291.1, |