rs425876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs425876(C;T) |
Make rs425876(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 42698407 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs425876 |
dbSNP (classic) | rs425876 |
ClinGen | rs425876 |
ebi | rs425876 |
HLI | rs425876 |
Exac | rs425876 |
Gnomad | rs425876 |
Varsome | rs425876 |
LitVar | rs425876 |
Map | rs425876 |
PheGenI | rs425876 |
Biobank | rs425876 |
1000 genomes | rs425876 |
hgdp | rs425876 |
ensembl | rs425876 |
geneview | rs425876 |
scholar | rs425876 |
rs425876 | |
pharmgkb | rs425876 |
gwascentral | rs425876 |
openSNP | rs425876 |
23andMe | rs425876 |
SNPshot | rs425876 |
SNPdbe | rs425876 |
MSV3d | rs425876 |
GWAS Ctlg | rs425876 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 26849151] Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.
ClinVar | |
---|---|
Risk | rs425876(T;T) |
Alt | rs425876(T;T) |
Reference | Rs425876(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa Choroidal Dystrophy Fundus albipunctatus Vitelliform macular dystrophy Cone-Rod Dystrophy |
Variation | info |
Gene | PRPH2 |
CLNDBN | not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa, Dominant Choroidal Dystrophy Fundus albipunctatus Vitelliform macular dystrophy Cone-Rod Dystrophy, Dominant |
Reversed | 0 |
HGVS | NC_000006.11:g.42666145C>T |
CLNSRC | |
CLNACC | RCV000153780.5, RCV000273176.1, RCV000277056.1, RCV000328116.1, RCV000332083.1, RCV000367746.1, RCV000382760.1, |