rs80356525

Orientation

minus

Stabilized

minus

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

Make rs80356525(C;G)

Make rs80356525(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45553741

Gene

OPA3

is a	snp
is	mentioned by
dbSNP	rs80356525
dbSNP (classic)	rs80356525
ClinGen	rs80356525
ebi	rs80356525
HLI	rs80356525
Exac	rs80356525
Gnomad	rs80356525
Varsome	rs80356525
LitVar	rs80356525
Map	rs80356525
PheGenI	rs80356525
Biobank	rs80356525
1000 genomes	rs80356525
hgdp	rs80356525
ensembl	rs80356525
geneview	rs80356525
scholar	rs80356525
google	rs80356525
pharmgkb	rs80356525
gwascentral	rs80356525
openSNP	rs80356525
23andMe	rs80356525
SNPshot	rs80356525
SNPdbe	rs80356525
MSV3d	rs80356525
GWAS Ctlg	rs80356525

Max Magnitude

0

OMIM	606580
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356525(G;G)
Alt	rs80356525(G;G)
Reference	Rs80356525(C;C)
Significance	Pathogenic
Disease	Optic atrophy and cataract
Variation	info
Gene	OPA3
CLNDBN	Optic atrophy and cataract, autosomal dominant
Reversed	1
HGVS	NC_000019.9:g.46056999G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004463.2,

[PMID 15342707] OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.