rs121918167
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918167(C;T) |
Make rs121918167(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 27871170 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918167 |
dbSNP (classic) | rs121918167 |
ClinGen | rs121918167 |
ebi | rs121918167 |
HLI | rs121918167 |
Exac | rs121918167 |
Gnomad | rs121918167 |
Varsome | rs121918167 |
LitVar | rs121918167 |
Map | rs121918167 |
PheGenI | rs121918167 |
Biobank | rs121918167 |
1000 genomes | rs121918167 |
hgdp | rs121918167 |
ensembl | rs121918167 |
geneview | rs121918167 |
scholar | rs121918167 |
rs121918167 | |
pharmgkb | rs121918167 |
gwascentral | rs121918167 |
openSNP | rs121918167 |
23andMe | rs121918167 |
SNPshot | rs121918167 |
SNPdbe | rs121918167 |
MSV3d | rs121918167 |
GWAS Ctlg | rs121918167 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918167(T;T) |
Alt | rs121918167(T;T) |
Reference | Rs121918167(C;C) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism not provided |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.28116316G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001007.4, RCV000481371.1, |