rs752683070
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752683070(C;C) |
Make rs752683070(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 65405349 |
Gene | EYS |
is a | snp |
is | mentioned by |
dbSNP | rs752683070 |
dbSNP (classic) | rs752683070 |
ClinGen | rs752683070 |
ebi | rs752683070 |
HLI | rs752683070 |
Exac | rs752683070 |
Gnomad | rs752683070 |
Varsome | rs752683070 |
LitVar | rs752683070 |
Map | rs752683070 |
PheGenI | rs752683070 |
Biobank | rs752683070 |
1000 genomes | rs752683070 |
hgdp | rs752683070 |
ensembl | rs752683070 |
geneview | rs752683070 |
scholar | rs752683070 |
rs752683070 | |
pharmgkb | rs752683070 |
gwascentral | rs752683070 |
openSNP | rs752683070 |
23andMe | rs752683070 |
SNPshot | rs752683070 |
SNPdbe | rs752683070 |
MSV3d | rs752683070 |
GWAS Ctlg | rs752683070 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752683070(C;C) |
Alt | rs752683070(C;C) |
Reference | Rs752683070(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 25 |
Variation | info |
Gene | EYS |
CLNDBN | Retinitis pigmentosa 25 |
Reversed | 0 |
HGVS | NC_000006.11:g.66115242G>C |
CLNSRC | |
CLNACC | RCV000190584.1, |