rs390659

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
google	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.