rs387906560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906560(-;-) |
Make rs387906560(-;A) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 12704547 |
Gene | LURAP1L-AS1, TYRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906560 |
dbSNP (classic) | rs387906560 |
ClinGen | rs387906560 |
ebi | rs387906560 |
HLI | rs387906560 |
Exac | rs387906560 |
Gnomad | rs387906560 |
Varsome | rs387906560 |
LitVar | rs387906560 |
Map | rs387906560 |
PheGenI | rs387906560 |
Biobank | rs387906560 |
1000 genomes | rs387906560 |
hgdp | rs387906560 |
ensembl | rs387906560 |
geneview | rs387906560 |
scholar | rs387906560 |
rs387906560 | |
pharmgkb | rs387906560 |
gwascentral | rs387906560 |
openSNP | rs387906560 |
23andMe | rs387906560 |
SNPshot | rs387906560 |
SNPdbe | rs387906560 |
MSV3d | rs387906560 |
GWAS Ctlg | rs387906560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906560(-;-) |
Alt | rs387906560(-;-) |
Reference | Rs387906560(A;A) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 3 |
Variation | info |
Gene | TYRP1 LURAP1L-AS1 |
CLNDBN | Oculocutaneous albinism type 3 |
Reversed | 0 |
HGVS | NC_000009.11:g.12704547delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019158.29, |