rs796065331
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGGAGAACCTGAGAA;TGGAGAACCTGAGAA) | 0 | common in clinvar |
Make rs796065331(C;C) |
Make rs796065331(C;TGGAGAACCTGAGAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 38310737 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs796065331 |
dbSNP (classic) | rs796065331 |
ClinGen | rs796065331 |
ebi | rs796065331 |
HLI | rs796065331 |
Exac | rs796065331 |
Gnomad | rs796065331 |
Varsome | rs796065331 |
LitVar | rs796065331 |
Map | rs796065331 |
PheGenI | rs796065331 |
Biobank | rs796065331 |
1000 genomes | rs796065331 |
hgdp | rs796065331 |
ensembl | rs796065331 |
geneview | rs796065331 |
scholar | rs796065331 |
rs796065331 | |
pharmgkb | rs796065331 |
gwascentral | rs796065331 |
openSNP | rs796065331 |
23andMe | rs796065331 |
SNPshot | rs796065331 |
SNPdbe | rs796065331 |
MSV3d | rs796065331 |
GWAS Ctlg | rs796065331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065331(C;C) |
Alt | rs796065331(C;C) |
Reference | Rs796065331(TGGAGAACCTGAGAA;TGGAGAACCTGAGAA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 15 |
Variation | info |
Gene | RPGR |
CLNDBN | Retinitis pigmentosa 15 |
Reversed | 1 |
HGVS | NC_000023.10:g.38169990_38170004delTTCTCAGGTTCTCCAinsG |
CLNSRC | |
CLNACC | RCV000179750.1, |