rs121918579
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918579(C;T) |
Make rs121918579(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 654119 |
Gene | LOC101928521, PDE6B |
is a | snp |
is | mentioned by |
dbSNP | rs121918579 |
dbSNP (classic) | rs121918579 |
ClinGen | rs121918579 |
ebi | rs121918579 |
HLI | rs121918579 |
Exac | rs121918579 |
Gnomad | rs121918579 |
Varsome | rs121918579 |
LitVar | rs121918579 |
Map | rs121918579 |
PheGenI | rs121918579 |
Biobank | rs121918579 |
1000 genomes | rs121918579 |
hgdp | rs121918579 |
ensembl | rs121918579 |
geneview | rs121918579 |
scholar | rs121918579 |
rs121918579 | |
pharmgkb | rs121918579 |
gwascentral | rs121918579 |
openSNP | rs121918579 |
23andMe | rs121918579 |
SNPshot | rs121918579 |
SNPdbe | rs121918579 |
MSV3d | rs121918579 |
GWAS Ctlg | rs121918579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918579(T;T) |
Alt | rs121918579(T;T) |
Reference | Rs121918579(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 40 |
Variation | info |
Gene | PDE6B RP11-1191J2.2 |
CLNDBN | Retinitis pigmentosa 40 |
Reversed | 0 |
HGVS | NC_000004.11:g.647908C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013982.20, |