rs121918563

Orientation

minus

Stabilized

minus

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

Make rs121918563(C;C)

Make rs121918563(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42721781

Gene

PRPH2

is a	snp
is	mentioned by
dbSNP	rs121918563
dbSNP (classic)	rs121918563
ClinGen	rs121918563
ebi	rs121918563
HLI	rs121918563
Exac	rs121918563
Gnomad	rs121918563
Varsome	rs121918563
LitVar	rs121918563
Map	rs121918563
PheGenI	rs121918563
Biobank	rs121918563
1000 genomes	rs121918563
hgdp	rs121918563
ensembl	rs121918563
geneview	rs121918563
scholar	rs121918563
google	rs121918563
pharmgkb	rs121918563
gwascentral	rs121918563
openSNP	rs121918563
23andMe	rs121918563
SNPshot	rs121918563
SNPdbe	rs121918563
MSV3d	rs121918563
GWAS Ctlg	rs121918563

Max Magnitude

0

OMIM	179605
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918563(C;C)
Alt	rs121918563(C;C)
Reference	Rs121918563(T;T)
Significance	Pathogenic
Disease	Retinitis pigmentosa 7 not provided Leber congenital amaurosis 18 Patterned dystrophy of retinal pigment epithelium
Variation	info
Gene	PRPH2
CLNDBN	Retinitis pigmentosa 7, digenic not provided Leber congenital amaurosis 18 Patterned dystrophy of retinal pigment epithelium
Reversed	1
HGVS	NC_000006.11:g.42689519A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014051.25, RCV000084987.1, RCV000149464.2, RCV000149466.2,