rs137852284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
(TCC;TCC) | 0 | common in clinvar |
Make rs137852284(-;-) |
Make rs137852284(-;TCC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 46837116 |
Gene | RP2 |
is a | snp |
is | mentioned by |
dbSNP | rs137852284 |
dbSNP (classic) | rs137852284 |
ClinGen | rs137852284 |
ebi | rs137852284 |
HLI | rs137852284 |
Exac | rs137852284 |
Gnomad | rs137852284 |
Varsome | rs137852284 |
LitVar | rs137852284 |
Map | rs137852284 |
PheGenI | rs137852284 |
Biobank | rs137852284 |
1000 genomes | rs137852284 |
hgdp | rs137852284 |
ensembl | rs137852284 |
geneview | rs137852284 |
scholar | rs137852284 |
rs137852284 | |
pharmgkb | rs137852284 |
gwascentral | rs137852284 |
openSNP | rs137852284 |
23andMe | rs137852284 |
SNPshot | rs137852284 |
SNPdbe | rs137852284 |
MSV3d | rs137852284 |
GWAS Ctlg | rs137852284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852284(-;-) |
Alt | rs137852284(-;-) |
Reference | Rs137852284(CTC;CTC) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 2 |
Variation | info |
Gene | RP2 |
CLNDBN | Retinitis pigmentosa 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.46696551_46696553delTCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011290.7, |