rs387906318
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
(TTC;TTC) | 0 | common/normal |
Make rs387906318(-;-) |
Make rs387906318(-;TTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 33963916 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906318 |
dbSNP (classic) | rs387906318 |
ClinGen | rs387906318 |
ebi | rs387906318 |
HLI | rs387906318 |
Exac | rs387906318 |
Gnomad | rs387906318 |
Varsome | rs387906318 |
LitVar | rs387906318 |
Map | rs387906318 |
PheGenI | rs387906318 |
Biobank | rs387906318 |
1000 genomes | rs387906318 |
hgdp | rs387906318 |
ensembl | rs387906318 |
geneview | rs387906318 |
scholar | rs387906318 |
rs387906318 | |
pharmgkb | rs387906318 |
gwascentral | rs387906318 |
openSNP | rs387906318 |
23andMe | rs387906318 |
SNPshot | rs387906318 |
SNPdbe | rs387906318 |
MSV3d | rs387906318 |
GWAS Ctlg | rs387906318 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906318(-;-) |
Alt | rs387906318(-;-) |
Reference | Rs387906318(TCT;TCT) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 1 |
HGVS | NC_000005.9:g.33964021_33964023delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004759.3, |