rs121918539

Orientation

plus

Stabilized

plus

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

Make rs121918539(A;G)

Make rs121918539(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

93635590

Gene

PDE6C

is a	snp
is	mentioned by
dbSNP	rs121918539
dbSNP (classic)	rs121918539
ClinGen	rs121918539
ebi	rs121918539
HLI	rs121918539
Exac	rs121918539
Gnomad	rs121918539
Varsome	rs121918539
LitVar	rs121918539
Map	rs121918539
PheGenI	rs121918539
Biobank	rs121918539
1000 genomes	rs121918539
hgdp	rs121918539
ensembl	rs121918539
geneview	rs121918539
scholar	rs121918539
google	rs121918539
pharmgkb	rs121918539
gwascentral	rs121918539
openSNP	rs121918539
23andMe	rs121918539
SNPshot	rs121918539
SNPdbe	rs121918539
MSV3d	rs121918539
GWAS Ctlg	rs121918539

Max Magnitude

0

OMIM	600827
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918539(G;G)
Alt	rs121918539(G;G)
Reference	Rs121918539(A;A)
Significance	Pathogenic
Disease	Achromatopsia 5
Variation	info
Gene	PDE6C
CLNDBN	Achromatopsia 5
Reversed	0
HGVS	NC_000010.10:g.95395347A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009312.3,