rs527236109
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs527236109(-;GTAG) |
Make rs527236109(GTAG;GTAG) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 38299113 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs527236109 |
dbSNP (classic) | rs527236109 |
ClinGen | rs527236109 |
ebi | rs527236109 |
HLI | rs527236109 |
Exac | rs527236109 |
Gnomad | rs527236109 |
Varsome | rs527236109 |
LitVar | rs527236109 |
Map | rs527236109 |
PheGenI | rs527236109 |
Biobank | rs527236109 |
1000 genomes | rs527236109 |
hgdp | rs527236109 |
ensembl | rs527236109 |
geneview | rs527236109 |
scholar | rs527236109 |
rs527236109 | |
pharmgkb | rs527236109 |
gwascentral | rs527236109 |
openSNP | rs527236109 |
23andMe | rs527236109 |
SNPshot | rs527236109 |
SNPdbe | rs527236109 |
MSV3d | rs527236109 |
GWAS Ctlg | rs527236109 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236109(GTAG;GTAG) |
Alt | rs527236109(GTAG;GTAG) |
Reference | Rs527236109(-;-) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RPGR |
CLNDBN | Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000023.10:g.38158366_38158367insCTAC |
CLNSRC | ClinVar |
CLNACC | RCV000132608.1, |