rs143319805

Orientation

plus

Stabilized

plus

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

Make rs143319805(A;G)

Make rs143319805(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193643378

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs143319805
dbSNP (classic)	rs143319805
ClinGen	rs143319805
ebi	rs143319805
HLI	rs143319805
Exac	rs143319805
Gnomad	rs143319805
Varsome	rs143319805
LitVar	rs143319805
Map	rs143319805
PheGenI	rs143319805
Biobank	rs143319805
1000 genomes	rs143319805
hgdp	rs143319805
ensembl	rs143319805
geneview	rs143319805
scholar	rs143319805
google	rs143319805
pharmgkb	rs143319805
gwascentral	rs143319805
openSNP	rs143319805
23andMe	rs143319805
SNPshot	rs143319805
SNPdbe	rs143319805
MSV3d	rs143319805
GWAS Ctlg	rs143319805

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs143319805(G;G)
Alt	rs143319805(G;G)
Reference	Rs143319805(A;A)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy not provided Abortive cerebellar ataxia not specified Optic Atrophy
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy not provided Abortive cerebellar ataxia not specified Optic Atrophy, Dominant
Reversed	0
HGVS	NC_000003.11:g.193361167A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043607.3, RCV000081747.5, RCV000210748.1, RCV000259043.1, RCV000316085.1,