rs28939082

Orientation

plus

Stabilized

plus

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

Make rs28939082(A;A)

Make rs28939082(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193637980

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs28939082
dbSNP (classic)	rs28939082
ClinGen	rs28939082
ebi	rs28939082
HLI	rs28939082
Exac	rs28939082
Gnomad	rs28939082
Varsome	rs28939082
LitVar	rs28939082
Map	rs28939082
PheGenI	rs28939082
Biobank	rs28939082
1000 genomes	rs28939082
hgdp	rs28939082
ensembl	rs28939082
geneview	rs28939082
scholar	rs28939082
google	rs28939082
pharmgkb	rs28939082
gwascentral	rs28939082
openSNP	rs28939082
23andMe	rs28939082
SNPshot	rs28939082
SNPdbe	rs28939082
MSV3d	rs28939082
GWAS Ctlg	rs28939082

Max Magnitude

0

OMIM	605290
Desc	OPTIC ATROPHY 1
Variant	0001
Related	also

ClinVar
Risk	rs28939082(A;A)
Alt	rs28939082(A;A)
Reference	Rs28939082(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.193355769G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005385.2,