rs869312188
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312188(-;GG) |
Make rs869312188(GG;GG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 63720752 |
Gene | EYS |
is a | snp |
is | mentioned by |
dbSNP | rs869312188 |
dbSNP (classic) | rs869312188 |
ClinGen | rs869312188 |
ebi | rs869312188 |
HLI | rs869312188 |
Exac | rs869312188 |
Gnomad | rs869312188 |
Varsome | rs869312188 |
LitVar | rs869312188 |
Map | rs869312188 |
PheGenI | rs869312188 |
Biobank | rs869312188 |
1000 genomes | rs869312188 |
hgdp | rs869312188 |
ensembl | rs869312188 |
geneview | rs869312188 |
scholar | rs869312188 |
rs869312188 | |
pharmgkb | rs869312188 |
gwascentral | rs869312188 |
openSNP | rs869312188 |
23andMe | rs869312188 |
SNPshot | rs869312188 |
SNPdbe | rs869312188 |
MSV3d | rs869312188 |
GWAS Ctlg | rs869312188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312188(GG;GG) |
Alt | rs869312188(GG;GG) |
Reference | Rs869312188(-;-) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | EYS |
CLNDBN | Retinal dystrophy |
Reversed | 1 |
HGVS | NC_000006.11:g.64430649_64430650dupCC |
CLNSRC | |
CLNACC | RCV000210301.1, |