rs794727069

Orientation

plus

Stabilized

plus

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

Make rs794727069(C;T)

Make rs794727069(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

193643431

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs794727069
dbSNP (classic)	rs794727069
ClinGen	rs794727069
ebi	rs794727069
HLI	rs794727069
Exac	rs794727069
Gnomad	rs794727069
Varsome	rs794727069
LitVar	rs794727069
Map	rs794727069
PheGenI	rs794727069
Biobank	rs794727069
1000 genomes	rs794727069
hgdp	rs794727069
ensembl	rs794727069
geneview	rs794727069
scholar	rs794727069
google	rs794727069
pharmgkb	rs794727069
gwascentral	rs794727069
openSNP	rs794727069
23andMe	rs794727069
SNPshot	rs794727069
SNPdbe	rs794727069
MSV3d	rs794727069
GWAS Ctlg	rs794727069

Max Magnitude

0

ClinVar
Risk	rs794727069(T;T)
Alt	rs794727069(T;T)
Reference	Rs794727069(C;C)
Significance	Probable-Pathogenic
Disease	Dominant hereditary optic atrophy
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193361220C>T
CLNSRC
CLNACC	RCV000174378.1,