rs797045838
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045838(A;T) |
Make rs797045838(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 27926194 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045838 |
dbSNP (classic) | rs797045838 |
ClinGen | rs797045838 |
ebi | rs797045838 |
HLI | rs797045838 |
Exac | rs797045838 |
Gnomad | rs797045838 |
Varsome | rs797045838 |
LitVar | rs797045838 |
Map | rs797045838 |
PheGenI | rs797045838 |
Biobank | rs797045838 |
1000 genomes | rs797045838 |
hgdp | rs797045838 |
ensembl | rs797045838 |
geneview | rs797045838 |
scholar | rs797045838 |
rs797045838 | |
pharmgkb | rs797045838 |
gwascentral | rs797045838 |
openSNP | rs797045838 |
23andMe | rs797045838 |
SNPshot | rs797045838 |
SNPdbe | rs797045838 |
MSV3d | rs797045838 |
GWAS Ctlg | rs797045838 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045838(T;T) |
Alt | rs797045838(T;T) |
Reference | Rs797045838(A;A) |
Significance | Probable-Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism |
Reversed | 1 |
HGVS | NC_000015.9:g.28171340T>A |
CLNSRC | |
CLNACC | RCV000194788.1, |