rs142931246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs142931246(C;C) |
Make rs142931246(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 28014795 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs142931246 |
dbSNP (classic) | rs142931246 |
ClinGen | rs142931246 |
ebi | rs142931246 |
HLI | rs142931246 |
Exac | rs142931246 |
Gnomad | rs142931246 |
Varsome | rs142931246 |
LitVar | rs142931246 |
Map | rs142931246 |
PheGenI | rs142931246 |
Biobank | rs142931246 |
1000 genomes | rs142931246 |
hgdp | rs142931246 |
ensembl | rs142931246 |
geneview | rs142931246 |
scholar | rs142931246 |
rs142931246 | |
pharmgkb | rs142931246 |
gwascentral | rs142931246 |
openSNP | rs142931246 |
23andMe | rs142931246 |
SNPshot | rs142931246 |
SNPdbe | rs142931246 |
MSV3d | rs142931246 |
GWAS Ctlg | rs142931246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142931246(C;C) |
Alt | rs142931246(C;C) |
Reference | Rs142931246(T;T) |
Significance | Probable-Pathogenic |
Disease | Albinism |
Variation | info |
Gene | OCA2 |
CLNDBN | Albinism |
Reversed | 0 |
HGVS | NC_000015.9:g.28259941T>C |
CLNSRC | |
CLNACC | RCV000415383.1, |