rs587776778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776778(-;-) |
Make rs587776778(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 233335081 |
Gene | SAG |
is a | snp |
is | mentioned by |
dbSNP | rs587776778 |
dbSNP (classic) | rs587776778 |
ClinGen | rs587776778 |
ebi | rs587776778 |
HLI | rs587776778 |
Exac | rs587776778 |
Gnomad | rs587776778 |
Varsome | rs587776778 |
LitVar | rs587776778 |
Map | rs587776778 |
PheGenI | rs587776778 |
Biobank | rs587776778 |
1000 genomes | rs587776778 |
hgdp | rs587776778 |
ensembl | rs587776778 |
geneview | rs587776778 |
scholar | rs587776778 |
rs587776778 | |
pharmgkb | rs587776778 |
gwascentral | rs587776778 |
openSNP | rs587776778 |
23andMe | rs587776778 |
SNPshot | rs587776778 |
SNPdbe | rs587776778 |
MSV3d | rs587776778 |
GWAS Ctlg | rs587776778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776778(-;-) |
Alt | rs587776778(-;-) |
Reference | Rs587776778(A;A) |
Significance | Pathogenic |
Disease | Oguchi's disease Retinitis pigmentosa 47 |
Variation | info |
Gene | SAG |
CLNDBN | Oguchi's disease Retinitis pigmentosa 47 |
Reversed | 0 |
HGVS | NC_000002.11:g.234243727delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013816.22, RCV000013817.27, |