rs730880271
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880271(-;-) |
Make rs730880271(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 33951589 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880271 |
dbSNP (classic) | rs730880271 |
ClinGen | rs730880271 |
ebi | rs730880271 |
HLI | rs730880271 |
Exac | rs730880271 |
Gnomad | rs730880271 |
Varsome | rs730880271 |
LitVar | rs730880271 |
Map | rs730880271 |
PheGenI | rs730880271 |
Biobank | rs730880271 |
1000 genomes | rs730880271 |
hgdp | rs730880271 |
ensembl | rs730880271 |
geneview | rs730880271 |
scholar | rs730880271 |
rs730880271 | |
pharmgkb | rs730880271 |
gwascentral | rs730880271 |
openSNP | rs730880271 |
23andMe | rs730880271 |
SNPshot | rs730880271 |
SNPdbe | rs730880271 |
MSV3d | rs730880271 |
GWAS Ctlg | rs730880271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880271(-;-) |
Alt | rs730880271(-;-) |
Reference | Rs730880271(T;T) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 1 |
HGVS | NC_000005.9:g.33951694delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004764.4, |