rs116887602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs116887602(A;A) |
Make rs116887602(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 33963745 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs116887602 |
dbSNP (classic) | rs116887602 |
ClinGen | rs116887602 |
ebi | rs116887602 |
HLI | rs116887602 |
Exac | rs116887602 |
Gnomad | rs116887602 |
Varsome | rs116887602 |
LitVar | rs116887602 |
Map | rs116887602 |
PheGenI | rs116887602 |
Biobank | rs116887602 |
1000 genomes | rs116887602 |
hgdp | rs116887602 |
ensembl | rs116887602 |
geneview | rs116887602 |
scholar | rs116887602 |
rs116887602 | |
pharmgkb | rs116887602 |
gwascentral | rs116887602 |
openSNP | rs116887602 |
23andMe | rs116887602 |
SNPshot | rs116887602 |
SNPdbe | rs116887602 |
MSV3d | rs116887602 |
GWAS Ctlg | rs116887602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116887602(A;A) rs116887602(C;C) rs116887602(T;T) |
Alt | rs116887602(A;A) rs116887602(C;C) rs116887602(T;T) |
Reference | Rs116887602(G;G) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.33963850G>C |
CLNSRC | |
CLNACC | RCV000349343.1, |