rs281865424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865424(A;A) |
Make rs281865424(A;G) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 12702424 |
Gene | LURAP1L-AS1, TYRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865424 |
dbSNP (classic) | rs281865424 |
ClinGen | rs281865424 |
ebi | rs281865424 |
HLI | rs281865424 |
Exac | rs281865424 |
Gnomad | rs281865424 |
Varsome | rs281865424 |
LitVar | rs281865424 |
Map | rs281865424 |
PheGenI | rs281865424 |
Biobank | rs281865424 |
1000 genomes | rs281865424 |
hgdp | rs281865424 |
ensembl | rs281865424 |
geneview | rs281865424 |
scholar | rs281865424 |
rs281865424 | |
pharmgkb | rs281865424 |
gwascentral | rs281865424 |
openSNP | rs281865424 |
23andMe | rs281865424 |
SNPshot | rs281865424 |
SNPdbe | rs281865424 |
MSV3d | rs281865424 |
GWAS Ctlg | rs281865424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865424(A;A) rs281865424(T;T) |
Alt | rs281865424(A;A) rs281865424(T;T) |
Reference | Rs281865424(G;G) |
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.12702424G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019162.28, |