rs527236111
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs527236111(-;-) |
Make rs527236111(-;TT) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 38304674 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs527236111 |
dbSNP (classic) | rs527236111 |
ClinGen | rs527236111 |
ebi | rs527236111 |
HLI | rs527236111 |
Exac | rs527236111 |
Gnomad | rs527236111 |
Varsome | rs527236111 |
LitVar | rs527236111 |
Map | rs527236111 |
PheGenI | rs527236111 |
Biobank | rs527236111 |
1000 genomes | rs527236111 |
hgdp | rs527236111 |
ensembl | rs527236111 |
geneview | rs527236111 |
scholar | rs527236111 |
rs527236111 | |
pharmgkb | rs527236111 |
gwascentral | rs527236111 |
openSNP | rs527236111 |
23andMe | rs527236111 |
SNPshot | rs527236111 |
SNPdbe | rs527236111 |
MSV3d | rs527236111 |
GWAS Ctlg | rs527236111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236111(-;-) |
Alt | rs527236111(-;-) |
Reference | Rs527236111(TT;TT) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RPGR |
CLNDBN | Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000023.10:g.38163927_38163928delAA |
CLNSRC | ClinVar |
CLNACC | RCV000132613.1, |