rs121918577

Orientation

minus

Stabilized

minus

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

Make rs121918577(A;A)

Make rs121918577(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149907345

Gene

PDE6A

is a	snp
is	mentioned by
dbSNP	rs121918577
dbSNP (classic)	rs121918577
ClinGen	rs121918577
ebi	rs121918577
HLI	rs121918577
Exac	rs121918577
Gnomad	rs121918577
Varsome	rs121918577
LitVar	rs121918577
Map	rs121918577
PheGenI	rs121918577
Biobank	rs121918577
1000 genomes	rs121918577
hgdp	rs121918577
ensembl	rs121918577
geneview	rs121918577
scholar	rs121918577
google	rs121918577
pharmgkb	rs121918577
gwascentral	rs121918577
openSNP	rs121918577
23andMe	rs121918577
SNPshot	rs121918577
SNPdbe	rs121918577
MSV3d	rs121918577
GWAS Ctlg	rs121918577

Max Magnitude

0

OMIM	180071
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918577(A;A) rs121918577(T;T)
Alt	rs121918577(A;A) rs121918577(T;T)
Reference	Rs121918577(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 43
Variation	info
Gene	PDE6A
CLNDBN	Retinitis pigmentosa 43
Reversed	1
HGVS	NC_000005.9:g.149286908G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013990.25,