rs28937899

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0.3	common in clinvar
(C;G)	2
(G;G)	3

Reference

GRCh38 38.1/141

Chromosome

19

Position

45553639

Gene

OPA3

is a	snp
is	mentioned by
dbSNP	rs28937899
dbSNP (classic)	rs28937899
ClinGen	rs28937899
ebi	rs28937899
HLI	rs28937899
Exac	rs28937899
Gnomad	rs28937899
Varsome	rs28937899
LitVar	rs28937899
Map	rs28937899
PheGenI	rs28937899
Biobank	rs28937899
1000 genomes	rs28937899
hgdp	rs28937899
ensembl	rs28937899
geneview	rs28937899
scholar	rs28937899
google	rs28937899
pharmgkb	rs28937899
gwascentral	rs28937899
openSNP	rs28937899
23andMe	rs28937899
SNPshot	rs28937899
SNPdbe	rs28937899
MSV3d	rs28937899
GWAS Ctlg	rs28937899

Max Magnitude

3

OMIM	606580
Desc	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
Variant	0003
Related	also

OMIM	258501
Desc
Variant
Related	also

ClinVar
Risk	rs28937899(T;T)
Alt	rs28937899(T;T)
Reference	Rs28937899(C;C)
Significance	Pathogenic
Disease	3-Methylglutaconic aciduria type 3
Variation	info
Gene	OPA3
CLNDBN	3-Methylglutaconic aciduria type 3
Reversed	1
HGVS	NC_000019.9:g.46056897G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020909.1,

[PMID 18985435] Costeff optic atrophy syndrome: new clinical case and novel molecular findings.