rs587777599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777599(C;T) |
Make rs587777599(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 113288183 |
Gene | PRPF4 |
is a | snp |
is | mentioned by |
dbSNP | rs587777599 |
dbSNP (classic) | rs587777599 |
ClinGen | rs587777599 |
ebi | rs587777599 |
HLI | rs587777599 |
Exac | rs587777599 |
Gnomad | rs587777599 |
Varsome | rs587777599 |
LitVar | rs587777599 |
Map | rs587777599 |
PheGenI | rs587777599 |
Biobank | rs587777599 |
1000 genomes | rs587777599 |
hgdp | rs587777599 |
ensembl | rs587777599 |
geneview | rs587777599 |
scholar | rs587777599 |
rs587777599 | |
pharmgkb | rs587777599 |
gwascentral | rs587777599 |
openSNP | rs587777599 |
23andMe | rs587777599 |
SNPshot | rs587777599 |
SNPdbe | rs587777599 |
MSV3d | rs587777599 |
GWAS Ctlg | rs587777599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777599(T;T) |
Alt | rs587777599(T;T) |
Reference | Rs587777599(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 70 |
Variation | info |
Gene | PRPF4 |
CLNDBN | Retinitis pigmentosa 70 |
Reversed | 0 |
HGVS | NC_000009.11:g.116050463C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132564.2, |