rs7764439

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs7764439(A;G)

Make rs7764439(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42722017

Gene

PRPH2

is a	snp
is	mentioned by
dbSNP	rs7764439
dbSNP (classic)	rs7764439
ClinGen	rs7764439
ebi	rs7764439
HLI	rs7764439
Exac	rs7764439
Gnomad	rs7764439
Varsome	rs7764439
LitVar	rs7764439
Map	rs7764439
PheGenI	rs7764439
Biobank	rs7764439
1000 genomes	rs7764439
hgdp	rs7764439
ensembl	rs7764439
geneview	rs7764439
scholar	rs7764439
google	rs7764439
pharmgkb	rs7764439
gwascentral	rs7764439
openSNP	rs7764439
23andMe	rs7764439
SNPshot	rs7764439
SNPdbe	rs7764439
MSV3d	rs7764439
GWAS Ctlg	rs7764439

GMAF

0.4252

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 22948568] Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration

ClinVar
Risk	rs7764439(G;G)
Alt	rs7764439(G;G)
Reference	Rs7764439(A;A)
Significance	Probable-non-pathogenic
Disease	not specified Vitelliform macular dystrophy Retinitis Pigmentosa Choroidal Dystrophy Fundus albipunctatus Cone-Rod Dystrophy Patterned dystrophy of retinal pigment epithelium
Variation	info
Gene	PRPH2
CLNDBN	not specified Vitelliform macular dystrophy Retinitis Pigmentosa, Dominant Choroidal Dystrophy Fundus albipunctatus Cone-Rod Dystrophy, Dominant Patterned dystrophy of retinal pigment epithelium
Reversed	0
HGVS	NC_000006.11:g.42689755A>G
CLNSRC	ClinVar Emory University GeneDx
CLNACC	RCV000078642.6, RCV000279604.1, RCV000283105.1, RCV000319470.1, RCV000334759.1, RCV000374032.1, RCV000377358.1,