rs387906561
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906561(-;-) |
Make rs387906561(-;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 12694103 |
Gene | TYRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906561 |
dbSNP (classic) | rs387906561 |
ClinGen | rs387906561 |
ebi | rs387906561 |
HLI | rs387906561 |
Exac | rs387906561 |
Gnomad | rs387906561 |
Varsome | rs387906561 |
LitVar | rs387906561 |
Map | rs387906561 |
PheGenI | rs387906561 |
Biobank | rs387906561 |
1000 genomes | rs387906561 |
hgdp | rs387906561 |
ensembl | rs387906561 |
geneview | rs387906561 |
scholar | rs387906561 |
rs387906561 | |
pharmgkb | rs387906561 |
gwascentral | rs387906561 |
openSNP | rs387906561 |
23andMe | rs387906561 |
SNPshot | rs387906561 |
SNPdbe | rs387906561 |
MSV3d | rs387906561 |
GWAS Ctlg | rs387906561 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906561(-;-) |
Alt | rs387906561(-;-) |
Reference | Rs387906561(T;T) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 3 |
Variation | info |
Gene | TYRP1 |
CLNDBN | Oculocutaneous albinism type 3 |
Reversed | 0 |
HGVS | NC_000009.11:g.12694103delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019163.28, |