rs794727139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727139(A;A) |
Make rs794727139(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149884779 |
Gene | PDE6A |
is a | snp |
is | mentioned by |
dbSNP | rs794727139 |
dbSNP (classic) | rs794727139 |
ClinGen | rs794727139 |
ebi | rs794727139 |
HLI | rs794727139 |
Exac | rs794727139 |
Gnomad | rs794727139 |
Varsome | rs794727139 |
LitVar | rs794727139 |
Map | rs794727139 |
PheGenI | rs794727139 |
Biobank | rs794727139 |
1000 genomes | rs794727139 |
hgdp | rs794727139 |
ensembl | rs794727139 |
geneview | rs794727139 |
scholar | rs794727139 |
rs794727139 | |
pharmgkb | rs794727139 |
gwascentral | rs794727139 |
openSNP | rs794727139 |
23andMe | rs794727139 |
SNPshot | rs794727139 |
SNPdbe | rs794727139 |
MSV3d | rs794727139 |
GWAS Ctlg | rs794727139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727139(A;A) |
Alt | rs794727139(A;A) |
Reference | Rs794727139(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 43 |
Variation | info |
Gene | PDE6A |
CLNDBN | Retinitis pigmentosa 43 |
Reversed | 1 |
HGVS | NC_000005.9:g.149264342C>T |
CLNSRC | |
CLNACC | RCV000174847.1, |