rs80356528

Orientation

plus

Stabilized

plus

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

Make rs80356528(G;T)

Make rs80356528(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193642846

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs80356528
dbSNP (classic)	rs80356528
ClinGen	rs80356528
ebi	rs80356528
HLI	rs80356528
Exac	rs80356528
Gnomad	rs80356528
Varsome	rs80356528
LitVar	rs80356528
Map	rs80356528
PheGenI	rs80356528
Biobank	rs80356528
1000 genomes	rs80356528
hgdp	rs80356528
ensembl	rs80356528
geneview	rs80356528
scholar	rs80356528
google	rs80356528
pharmgkb	rs80356528
gwascentral	rs80356528
openSNP	rs80356528
23andMe	rs80356528
SNPshot	rs80356528
SNPdbe	rs80356528
MSV3d	rs80356528
GWAS Ctlg	rs80356528

Max Magnitude

0

ClinVar
Risk	rs80356528(T;T)
Alt	rs80356528(T;T)
Reference	Rs80356528(G;G)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193360635G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020717.1,