rs797045970
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045970(G;G) |
Make rs797045970(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 33964001 |
Gene | SLC45A2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045970 |
dbSNP (classic) | rs797045970 |
ClinGen | rs797045970 |
ebi | rs797045970 |
HLI | rs797045970 |
Exac | rs797045970 |
Gnomad | rs797045970 |
Varsome | rs797045970 |
LitVar | rs797045970 |
Map | rs797045970 |
PheGenI | rs797045970 |
Biobank | rs797045970 |
1000 genomes | rs797045970 |
hgdp | rs797045970 |
ensembl | rs797045970 |
geneview | rs797045970 |
scholar | rs797045970 |
rs797045970 | |
pharmgkb | rs797045970 |
gwascentral | rs797045970 |
openSNP | rs797045970 |
23andMe | rs797045970 |
SNPshot | rs797045970 |
SNPdbe | rs797045970 |
MSV3d | rs797045970 |
GWAS Ctlg | rs797045970 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045970(G;G) |
Alt | rs797045970(G;G) |
Reference | Rs797045970(T;T) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 4 |
Variation | info |
Gene | SLC45A2 |
CLNDBN | Oculocutaneous albinism type 4 |
Reversed | 1 |
HGVS | NC_000005.9:g.33964106A>C |
CLNSRC | |
CLNACC | RCV000193320.1, |