rs121918567

Orientation

minus

Stabilized

minus

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

Make rs121918567(G;T)

Make rs121918567(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42704609

Gene

PRPH2

is a	snp
is	mentioned by
dbSNP	rs121918567
dbSNP (classic)	rs121918567
ClinGen	rs121918567
ebi	rs121918567
HLI	rs121918567
Exac	rs121918567
Gnomad	rs121918567
Varsome	rs121918567
LitVar	rs121918567
Map	rs121918567
PheGenI	rs121918567
Biobank	rs121918567
1000 genomes	rs121918567
hgdp	rs121918567
ensembl	rs121918567
geneview	rs121918567
scholar	rs121918567
google	rs121918567
pharmgkb	rs121918567
gwascentral	rs121918567
openSNP	rs121918567
23andMe	rs121918567
SNPshot	rs121918567
SNPdbe	rs121918567
MSV3d	rs121918567
GWAS Ctlg	rs121918567

GMAF

0.0004591

Max Magnitude

0

OMIM	179605
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121918567(T;T)
Alt	rs121918567(T;T)
Reference	Rs121918567(G;G)
Significance	Pathogenic
Disease	Choroidal dystrophy not provided
Variation	info
Gene	PRPH2
CLNDBN	Choroidal dystrophy, central areolar 2 not provided
Reversed	1
HGVS	NC_000006.11:g.42672347C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014070.25, RCV000084990.1,