rs368124046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368124046(C;T) |
Make rs368124046(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 27983340 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs368124046 |
dbSNP (classic) | rs368124046 |
ClinGen | rs368124046 |
ebi | rs368124046 |
HLI | rs368124046 |
Exac | rs368124046 |
Gnomad | rs368124046 |
Varsome | rs368124046 |
LitVar | rs368124046 |
Map | rs368124046 |
PheGenI | rs368124046 |
Biobank | rs368124046 |
1000 genomes | rs368124046 |
hgdp | rs368124046 |
ensembl | rs368124046 |
geneview | rs368124046 |
scholar | rs368124046 |
rs368124046 | |
pharmgkb | rs368124046 |
gwascentral | rs368124046 |
openSNP | rs368124046 |
23andMe | rs368124046 |
SNPshot | rs368124046 |
SNPdbe | rs368124046 |
MSV3d | rs368124046 |
GWAS Ctlg | rs368124046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368124046(T;T) |
Alt | rs368124046(T;T) |
Reference | Rs368124046(C;C) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism not provided |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.28228486C>T |
CLNSRC | |
CLNACC | RCV000193557.1, RCV000302408.1, |