rs387906317
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906317(-;-) |
Make rs387906317(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 33954407 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906317 |
dbSNP (classic) | rs387906317 |
ClinGen | rs387906317 |
ebi | rs387906317 |
HLI | rs387906317 |
Exac | rs387906317 |
Gnomad | rs387906317 |
Varsome | rs387906317 |
LitVar | rs387906317 |
Map | rs387906317 |
PheGenI | rs387906317 |
Biobank | rs387906317 |
1000 genomes | rs387906317 |
hgdp | rs387906317 |
ensembl | rs387906317 |
geneview | rs387906317 |
scholar | rs387906317 |
rs387906317 | |
pharmgkb | rs387906317 |
gwascentral | rs387906317 |
openSNP | rs387906317 |
23andMe | rs387906317 |
SNPshot | rs387906317 |
SNPdbe | rs387906317 |
MSV3d | rs387906317 |
GWAS Ctlg | rs387906317 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906317(-;-) |
Alt | rs387906317(-;-) |
Reference | Rs387906317(C;C) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 1 |
HGVS | NC_000005.9:g.33954512delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004758.4, |