rs835

minus

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

Make rs835(A;A)

Make rs835(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

42698150

Gene

PRPH2

is a	snp
is	mentioned by
dbSNP	rs835
dbSNP (classic)	rs835
ClinGen	rs835
ebi	rs835
HLI	rs835
Exac	rs835
Gnomad	rs835
Varsome	rs835
LitVar	rs835
Map	rs835
PheGenI	rs835
Biobank	rs835
1000 genomes	rs835
hgdp	rs835
ensembl	rs835
geneview	rs835
scholar	rs835
google	rs835
pharmgkb	rs835
gwascentral	rs835
openSNP	rs835
23andMe	rs835
SNPshot	rs835
SNPdbe	rs835
MSV3d	rs835
GWAS Ctlg	rs835

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 26849151] Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.

ClinVar
Risk	rs835(A;A)
Alt	rs835(A;A)
Reference	Rs835(G;G)
Significance	Probable-non-pathogenic
Disease	Cone-Rod Dystrophy Choroidal Dystrophy Vitelliform macular dystrophy Retinitis Pigmentosa Fundus albipunctatus Patterned dystrophy of retinal pigment epithelium
Variation	info
Gene	PRPH2
CLNDBN	Cone-Rod Dystrophy, Dominant Choroidal Dystrophy Vitelliform macular dystrophy Retinitis Pigmentosa, Dominant Fundus albipunctatus Patterned dystrophy of retinal pigment epithelium
Reversed	1
HGVS	NC_000006.11:g.42665888C>T
CLNSRC
CLNACC	RCV000268625.1, RCV000271626.1, RCV000322523.1, RCV000325995.1, RCV000360948.1, RCV000382471.1,