rs754012367
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGTC;AGTC) | 0 | common in clinvar |
Make rs754012367(-;-) |
Make rs754012367(-;AGTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 149866193 |
Gene | PDE6A |
is a | snp |
is | mentioned by |
dbSNP | rs754012367 |
dbSNP (classic) | rs754012367 |
ClinGen | rs754012367 |
ebi | rs754012367 |
HLI | rs754012367 |
Exac | rs754012367 |
Gnomad | rs754012367 |
Varsome | rs754012367 |
LitVar | rs754012367 |
Map | rs754012367 |
PheGenI | rs754012367 |
Biobank | rs754012367 |
1000 genomes | rs754012367 |
hgdp | rs754012367 |
ensembl | rs754012367 |
geneview | rs754012367 |
scholar | rs754012367 |
rs754012367 | |
pharmgkb | rs754012367 |
gwascentral | rs754012367 |
openSNP | rs754012367 |
23andMe | rs754012367 |
SNPshot | rs754012367 |
SNPdbe | rs754012367 |
MSV3d | rs754012367 |
GWAS Ctlg | rs754012367 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754012367(-;-) |
Alt | rs754012367(-;-) |
Reference | Rs754012367(AGTC;AGTC) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 43 |
Variation | info |
Gene | PDE6A |
CLNDBN | Retinitis pigmentosa 43 |
Reversed | 0 |
HGVS | NC_000005.9:g.149245756_149245759delAGTC |
CLNSRC | |
CLNACC | RCV000176038.1, |