rs797044784
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGG;CTGG) | 0 | common in clinvar |
Make rs797044784(CTGG;GGTC) |
Make rs797044784(GGTC;GGTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 28016172 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044784 |
dbSNP (classic) | rs797044784 |
ClinGen | rs797044784 |
ebi | rs797044784 |
HLI | rs797044784 |
Exac | rs797044784 |
Gnomad | rs797044784 |
Varsome | rs797044784 |
LitVar | rs797044784 |
Map | rs797044784 |
PheGenI | rs797044784 |
Biobank | rs797044784 |
1000 genomes | rs797044784 |
hgdp | rs797044784 |
ensembl | rs797044784 |
geneview | rs797044784 |
scholar | rs797044784 |
rs797044784 | |
pharmgkb | rs797044784 |
gwascentral | rs797044784 |
openSNP | rs797044784 |
23andMe | rs797044784 |
SNPshot | rs797044784 |
SNPdbe | rs797044784 |
MSV3d | rs797044784 |
GWAS Ctlg | rs797044784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044784(GGTC;GGTC) |
Alt | rs797044784(GGTC;GGTC) |
Reference | Rs797044784(CTGG;CTGG) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism not specified |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism not specified |
Reversed | 1 |
HGVS | NC_000015.9:g.28261318_28261321delCCAGinsGACC |
CLNSRC | |
CLNACC | RCV000180125.1, RCV000486337.1, |