rs62638637
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62638637(A;A) |
Make rs62638637(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38321041 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs62638637 |
dbSNP (classic) | rs62638637 |
ClinGen | rs62638637 |
ebi | rs62638637 |
HLI | rs62638637 |
Exac | rs62638637 |
Gnomad | rs62638637 |
Varsome | rs62638637 |
LitVar | rs62638637 |
Map | rs62638637 |
PheGenI | rs62638637 |
Biobank | rs62638637 |
1000 genomes | rs62638637 |
hgdp | rs62638637 |
ensembl | rs62638637 |
geneview | rs62638637 |
scholar | rs62638637 |
rs62638637 | |
pharmgkb | rs62638637 |
gwascentral | rs62638637 |
openSNP | rs62638637 |
23andMe | rs62638637 |
SNPshot | rs62638637 |
SNPdbe | rs62638637 |
MSV3d | rs62638637 |
GWAS Ctlg | rs62638637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62638637(A;A) |
Alt | rs62638637(A;A) |
Reference | Rs62638637(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 15 not provided |
Variation | info |
Gene | RPGR |
CLNDBN | Retinitis pigmentosa 15 not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.38180294G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010584.4, RCV000085096.1, |