rs267607019
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs267607019(AG;CT) |
Make rs267607019(CT;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38286151 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs267607019 |
dbSNP (classic) | rs267607019 |
ClinGen | rs267607019 |
ebi | rs267607019 |
HLI | rs267607019 |
Exac | rs267607019 |
Gnomad | rs267607019 |
Varsome | rs267607019 |
LitVar | rs267607019 |
Map | rs267607019 |
PheGenI | rs267607019 |
Biobank | rs267607019 |
1000 genomes | rs267607019 |
hgdp | rs267607019 |
ensembl | rs267607019 |
geneview | rs267607019 |
scholar | rs267607019 |
rs267607019 | |
pharmgkb | rs267607019 |
gwascentral | rs267607019 |
openSNP | rs267607019 |
23andMe | rs267607019 |
SNPshot | rs267607019 |
SNPdbe | rs267607019 |
MSV3d | rs267607019 |
GWAS Ctlg | rs267607019 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607019(CT;CT) |
Alt | rs267607019(CT;CT) |
Reference | Rs267607019(AG;AG) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy |
Variation | info |
Gene | RPGR |
CLNDBN | Cone-rod dystrophy, X-linked 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.38145404_38145405delCTinsAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010595.2, |