rs183589498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs183589498(A;G) |
Make rs183589498(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 63720822 |
Gene | EYS |
is a | snp |
is | mentioned by |
dbSNP | rs183589498 |
dbSNP (classic) | rs183589498 |
ClinGen | rs183589498 |
ebi | rs183589498 |
HLI | rs183589498 |
Exac | rs183589498 |
Gnomad | rs183589498 |
Varsome | rs183589498 |
LitVar | rs183589498 |
Map | rs183589498 |
PheGenI | rs183589498 |
Biobank | rs183589498 |
1000 genomes | rs183589498 |
hgdp | rs183589498 |
ensembl | rs183589498 |
geneview | rs183589498 |
scholar | rs183589498 |
rs183589498 | |
pharmgkb | rs183589498 |
gwascentral | rs183589498 |
openSNP | rs183589498 |
23andMe | rs183589498 |
SNPshot | rs183589498 |
SNPdbe | rs183589498 |
MSV3d | rs183589498 |
GWAS Ctlg | rs183589498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs183589498(G;G) |
Alt | rs183589498(G;G) |
Reference | Rs183589498(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | EYS |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000006.11:g.64430718A>G |
CLNSRC | ClinVar |
CLNACC | RCV000132637.1, |