rs771214648
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs771214648(-;-) |
Make rs771214648(-;TC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 38285820 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs771214648 |
dbSNP (classic) | rs771214648 |
ClinGen | rs771214648 |
ebi | rs771214648 |
HLI | rs771214648 |
Exac | rs771214648 |
Gnomad | rs771214648 |
Varsome | rs771214648 |
LitVar | rs771214648 |
Map | rs771214648 |
PheGenI | rs771214648 |
Biobank | rs771214648 |
1000 genomes | rs771214648 |
hgdp | rs771214648 |
ensembl | rs771214648 |
geneview | rs771214648 |
scholar | rs771214648 |
rs771214648 | |
pharmgkb | rs771214648 |
gwascentral | rs771214648 |
openSNP | rs771214648 |
23andMe | rs771214648 |
SNPshot | rs771214648 |
SNPdbe | rs771214648 |
MSV3d | rs771214648 |
GWAS Ctlg | rs771214648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771214648(-;-) |
Alt | rs771214648(-;-) |
Reference | Rs771214648(TC;TC) |
Significance | Probable-Pathogenic |
Disease | Cone-rod dystrophy |
Variation | info |
Gene | RPGR |
CLNDBN | Cone-rod dystrophy, X-linked 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.38145073_38145074delTC |
CLNSRC | |
CLNACC | RCV000198843.1, |