rs390659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs390659(C;C) |
Make rs390659(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42698426 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs390659 |
dbSNP (classic) | rs390659 |
ClinGen | rs390659 |
ebi | rs390659 |
HLI | rs390659 |
Exac | rs390659 |
Gnomad | rs390659 |
Varsome | rs390659 |
LitVar | rs390659 |
Map | rs390659 |
PheGenI | rs390659 |
Biobank | rs390659 |
1000 genomes | rs390659 |
hgdp | rs390659 |
ensembl | rs390659 |
geneview | rs390659 |
scholar | rs390659 |
rs390659 | |
pharmgkb | rs390659 |
gwascentral | rs390659 |
openSNP | rs390659 |
23andMe | rs390659 |
SNPshot | rs390659 |
SNPdbe | rs390659 |
MSV3d | rs390659 |
GWAS Ctlg | rs390659 |
GMAF | 0.2199 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 22948568] Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration
ClinVar | |
---|---|
Risk | rs390659(C;C) |
Alt | rs390659(C;C) |
Reference | Rs390659(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Fundus albipunctatus Vitelliform macular dystrophy Choroidal Dystrophy Cone-Rod Dystrophy Retinitis Pigmentosa Patterned dystrophy of retinal pigment epithelium |
Variation | info |
Gene | PRPH2 |
CLNDBN | not specified Fundus albipunctatus Vitelliform macular dystrophy Choroidal Dystrophy Cone-Rod Dystrophy, Dominant Retinitis Pigmentosa, Dominant Patterned dystrophy of retinal pigment epithelium |
Reversed | 0 |
HGVS | NC_000006.11:g.42666164G>C |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000153781.5, RCV000285041.1, RCV000288514.1, RCV000324837.1, RCV000339530.1, RCV000379504.1, RCV000391586.1, |
[PMID 26849151] Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.