rs104894130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894130(C;G) |
Make rs104894130(G;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 9 |
Position | 12695626 |
Gene | TYRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894130 |
dbSNP (classic) | rs104894130 |
ClinGen | rs104894130 |
ebi | rs104894130 |
HLI | rs104894130 |
Exac | rs104894130 |
Gnomad | rs104894130 |
Varsome | rs104894130 |
LitVar | rs104894130 |
Map | rs104894130 |
PheGenI | rs104894130 |
Biobank | rs104894130 |
1000 genomes | rs104894130 |
hgdp | rs104894130 |
ensembl | rs104894130 |
geneview | rs104894130 |
scholar | rs104894130 |
rs104894130 | |
pharmgkb | rs104894130 |
gwascentral | rs104894130 |
openSNP | rs104894130 |
23andMe | rs104894130 |
SNPshot | rs104894130 |
SNPdbe | rs104894130 |
MSV3d | rs104894130 |
GWAS Ctlg | rs104894130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894130(G;G) |
Alt | rs104894130(G;G) |
Reference | Rs104894130(C;C) |
Significance | Other |
Disease | Oculocutaneous albinism type 3 OCULOCUTANEOUS ALBINISM not provided |
Variation | info |
Gene | TYRP1 |
CLNDBN | Oculocutaneous albinism type 3 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.12695626C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019159.25, RCV000019160.26, RCV000373290.1, |