rs121918564

Orientation

minus

Stabilized

minus

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

Make rs121918564(A;A)

Make rs121918564(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42704419

Gene

PRPH2

is a	snp
is	mentioned by
dbSNP	rs121918564
dbSNP (classic)	rs121918564
ClinGen	rs121918564
ebi	rs121918564
HLI	rs121918564
Exac	rs121918564
Gnomad	rs121918564
Varsome	rs121918564
LitVar	rs121918564
Map	rs121918564
PheGenI	rs121918564
Biobank	rs121918564
1000 genomes	rs121918564
hgdp	rs121918564
ensembl	rs121918564
geneview	rs121918564
scholar	rs121918564
google	rs121918564
pharmgkb	rs121918564
gwascentral	rs121918564
openSNP	rs121918564
23andMe	rs121918564
SNPshot	rs121918564
SNPdbe	rs121918564
MSV3d	rs121918564
GWAS Ctlg	rs121918564

Max Magnitude

0

OMIM	179605
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918564(A;A)
Alt	rs121918564(A;A)
Reference	Rs121918564(C;C)
Significance	Pathogenic
Disease	Macular dystrophy
Variation	info
Gene	PRPH2
CLNDBN	Macular dystrophy, vitelliform, adult-onset
Reversed	1
HGVS	NC_000006.11:g.42672157G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014054.26,