rs74653330
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74653330(A;A) |
Make rs74653330(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 27983407 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs74653330 |
dbSNP (classic) | rs74653330 |
ClinGen | rs74653330 |
ebi | rs74653330 |
HLI | rs74653330 |
Exac | rs74653330 |
Gnomad | rs74653330 |
Varsome | rs74653330 |
LitVar | rs74653330 |
Map | rs74653330 |
PheGenI | rs74653330 |
Biobank | rs74653330 |
1000 genomes | rs74653330 |
hgdp | rs74653330 |
ensembl | rs74653330 |
geneview | rs74653330 |
scholar | rs74653330 |
rs74653330 | |
pharmgkb | rs74653330 |
gwascentral | rs74653330 |
openSNP | rs74653330 |
23andMe | rs74653330 |
SNPshot | rs74653330 |
SNPdbe | rs74653330 |
MSV3d | rs74653330 |
GWAS Ctlg | rs74653330 |
GMAF | 0.01515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74653330(A;A) |
Alt | rs74653330(A;A) |
Reference | Rs74653330(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism not specified not provided |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism not specified not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.28228553C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001005.3, RCV000251919.1, RCV000487934.1, |