rs863223342
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223342(-;T) |
Make rs863223342(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 197421287 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223342 |
dbSNP (classic) | rs863223342 |
ClinGen | rs863223342 |
ebi | rs863223342 |
HLI | rs863223342 |
Exac | rs863223342 |
Gnomad | rs863223342 |
Varsome | rs863223342 |
LitVar | rs863223342 |
Map | rs863223342 |
PheGenI | rs863223342 |
Biobank | rs863223342 |
1000 genomes | rs863223342 |
hgdp | rs863223342 |
ensembl | rs863223342 |
geneview | rs863223342 |
scholar | rs863223342 |
rs863223342 | |
pharmgkb | rs863223342 |
gwascentral | rs863223342 |
openSNP | rs863223342 |
23andMe | rs863223342 |
SNPshot | rs863223342 |
SNPdbe | rs863223342 |
MSV3d | rs863223342 |
GWAS Ctlg | rs863223342 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223342(T;T) |
Alt | rs863223342(T;T) |
Reference | Rs863223342(-;-) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | CRB1 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000001.10:g.197390417dupT |
CLNSRC | |
CLNACC | RCV000201458.1, |