rs121917744

Orientation

minus

Stabilized

minus

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

Make rs121917744(A;A)

Make rs121917744(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

68438228

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs121917744
dbSNP (classic)	rs121917744
ClinGen	rs121917744
ebi	rs121917744
HLI	rs121917744
Exac	rs121917744
Gnomad	rs121917744
Varsome	rs121917744
LitVar	rs121917744
Map	rs121917744
PheGenI	rs121917744
Biobank	rs121917744
1000 genomes	rs121917744
hgdp	rs121917744
ensembl	rs121917744
geneview	rs121917744
scholar	rs121917744
google	rs121917744
pharmgkb	rs121917744
gwascentral	rs121917744
openSNP	rs121917744
23andMe	rs121917744
SNPshot	rs121917744
SNPdbe	rs121917744
MSV3d	rs121917744
GWAS Ctlg	rs121917744

Max Magnitude

0

OMIM	180069
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121917744(A;A) rs121917744(T;T)
Alt	rs121917744(A;A) rs121917744(T;T)
Reference	Rs121917744(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 20
Variation	info
Gene	RPE65
CLNDBN	Retinitis pigmentosa 20
Reversed	1
HGVS	NC_000001.10:g.68903911G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013996.24,