rs201541131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201541131(C;T) |
Make rs201541131(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 662197 |
Gene | PDE6B |
is a | snp |
is | mentioned by |
dbSNP | rs201541131 |
dbSNP (classic) | rs201541131 |
ClinGen | rs201541131 |
ebi | rs201541131 |
HLI | rs201541131 |
Exac | rs201541131 |
Gnomad | rs201541131 |
Varsome | rs201541131 |
LitVar | rs201541131 |
Map | rs201541131 |
PheGenI | rs201541131 |
Biobank | rs201541131 |
1000 genomes | rs201541131 |
hgdp | rs201541131 |
ensembl | rs201541131 |
geneview | rs201541131 |
scholar | rs201541131 |
rs201541131 | |
pharmgkb | rs201541131 |
gwascentral | rs201541131 |
openSNP | rs201541131 |
23andMe | rs201541131 |
SNPshot | rs201541131 |
SNPdbe | rs201541131 |
MSV3d | rs201541131 |
GWAS Ctlg | rs201541131 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201541131(T;T) |
Alt | rs201541131(T;T) |
Reference | Rs201541131(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 40 |
Variation | info |
Gene | PDE6B LOC101928494 |
CLNDBN | Retinitis pigmentosa 40 |
Reversed | 0 |
HGVS | NC_000004.11:g.655986C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201856.3, |