rs361524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs361524(A;A) |
Make rs361524(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 42698282 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs361524 |
dbSNP (classic) | rs361524 |
ClinGen | rs361524 |
ebi | rs361524 |
HLI | rs361524 |
Exac | rs361524 |
Gnomad | rs361524 |
Varsome | rs361524 |
LitVar | rs361524 |
Map | rs361524 |
PheGenI | rs361524 |
Biobank | rs361524 |
1000 genomes | rs361524 |
hgdp | rs361524 |
ensembl | rs361524 |
geneview | rs361524 |
scholar | rs361524 |
rs361524 | |
pharmgkb | rs361524 |
gwascentral | rs361524 |
openSNP | rs361524 |
23andMe | rs361524 |
SNPshot | rs361524 |
SNPdbe | rs361524 |
MSV3d | rs361524 |
GWAS Ctlg | rs361524 |
Max Magnitude | 0 |
[PMID 26849151] Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.
ClinVar | |
---|---|
Risk | rs361524(A;A) |
Alt | rs361524(A;A) |
Reference | Rs361524(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa Cone-Rod Dystrophy Fundus albipunctatus Choroidal Dystrophy Vitelliform macular dystrophy |
Variation | info |
Gene | PRPH2 |
CLNDBN | not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa, Dominant Cone-Rod Dystrophy, Dominant Fundus albipunctatus Choroidal Dystrophy Vitelliform macular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.42666020G>A |
CLNSRC | |
CLNACC | RCV000153778.4, RCV000269989.1, RCV000273639.1, RCV000308991.1, RCV000331121.1, RCV000362190.1, RCV000365965.1, |