rs200311463

Orientation

plus

Stabilized

plus

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

Make rs200311463(C;G)

Make rs200311463(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

14978047

Gene	LOC105369670, PDE6H

is a	snp
is	mentioned by
dbSNP	rs200311463
dbSNP (classic)	rs200311463
ClinGen	rs200311463
ebi	rs200311463
HLI	rs200311463
Exac	rs200311463
Gnomad	rs200311463
Varsome	rs200311463
LitVar	rs200311463
Map	rs200311463
PheGenI	rs200311463
Biobank	rs200311463
1000 genomes	rs200311463
hgdp	rs200311463
ensembl	rs200311463
geneview	rs200311463
scholar	rs200311463
google	rs200311463
pharmgkb	rs200311463
gwascentral	rs200311463
openSNP	rs200311463
23andMe	rs200311463
SNPshot	rs200311463
SNPdbe	rs200311463
MSV3d	rs200311463
GWAS Ctlg	rs200311463

Max Magnitude

0

ClinVar
Risk	rs200311463(G;G)
Alt	rs200311463(G;G)
Reference	Rs200311463(C;C)
Significance	Pathogenic
Disease	Achromatopsia 6 Retinal cone dystrophy 3A
Variation	info
Gene	PDE6H
CLNDBN	Achromatopsia 6 Retinal cone dystrophy 3A
Reversed	0
HGVS	NC_000012.11:g.15130981C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030807.3, RCV000055928.1,