rs398122962
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398122962(-;-) |
Make rs398122962(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 181603898 |
Gene | CERKL |
is a | snp |
is | mentioned by |
dbSNP | rs398122962 |
dbSNP (classic) | rs398122962 |
ClinGen | rs398122962 |
ebi | rs398122962 |
HLI | rs398122962 |
Exac | rs398122962 |
Gnomad | rs398122962 |
Varsome | rs398122962 |
LitVar | rs398122962 |
Map | rs398122962 |
PheGenI | rs398122962 |
Biobank | rs398122962 |
1000 genomes | rs398122962 |
hgdp | rs398122962 |
ensembl | rs398122962 |
geneview | rs398122962 |
scholar | rs398122962 |
rs398122962 | |
pharmgkb | rs398122962 |
gwascentral | rs398122962 |
openSNP | rs398122962 |
23andMe | rs398122962 |
SNPshot | rs398122962 |
SNPdbe | rs398122962 |
MSV3d | rs398122962 |
GWAS Ctlg | rs398122962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122962(-;-) |
Alt | rs398122962(-;-) |
Reference | Rs398122962(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 26 |
Variation | info |
Gene | CERKL |
CLNDBN | Retinitis pigmentosa 26 |
Reversed | 1 |
HGVS | NC_000002.11:g.182468625delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000076910.4, |