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rs361524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs361524(A;A)
Make rs361524(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42698282
GenePRPH2
is asnp
is mentioned by
dbSNPrs361524
dbSNP (classic)rs361524
ClinGenrs361524
ebirs361524
HLIrs361524
Exacrs361524
Gnomadrs361524
Varsomers361524
LitVarrs361524
Maprs361524
PheGenIrs361524
Biobankrs361524
1000 genomesrs361524
hgdprs361524
ensemblrs361524
geneviewrs361524
scholarrs361524
googlers361524
pharmgkbrs361524
gwascentralrs361524
openSNPrs361524
23andMers361524
SNPshotrs361524
SNPdbers361524
MSV3drs361524
GWAS Ctlgrs361524
Max Magnitude0

[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,