rs606231181
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs606231181(-;-) |
Make rs606231181(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 38285906 |
Gene | RPGR |
is a | snp |
is | mentioned by |
dbSNP | rs606231181 |
dbSNP (classic) | rs606231181 |
ClinGen | rs606231181 |
ebi | rs606231181 |
HLI | rs606231181 |
Exac | rs606231181 |
Gnomad | rs606231181 |
Varsome | rs606231181 |
LitVar | rs606231181 |
Map | rs606231181 |
PheGenI | rs606231181 |
Biobank | rs606231181 |
1000 genomes | rs606231181 |
hgdp | rs606231181 |
ensembl | rs606231181 |
geneview | rs606231181 |
scholar | rs606231181 |
rs606231181 | |
pharmgkb | rs606231181 |
gwascentral | rs606231181 |
openSNP | rs606231181 |
23andMe | rs606231181 |
SNPshot | rs606231181 |
SNPdbe | rs606231181 |
MSV3d | rs606231181 |
GWAS Ctlg | rs606231181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231181(-;-) |
Alt | rs606231181(-;-) |
Reference | Rs606231181(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.38145159_38145160delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010589.5, |