rs879255513

Orientation

plus

Stabilized

plus

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

Make rs879255513(-;-)

Make rs879255513(-;GA)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

193692092

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs879255513
dbSNP (classic)	rs879255513
ClinGen	rs879255513
ebi	rs879255513
HLI	rs879255513
Exac	rs879255513
Gnomad	rs879255513
Varsome	rs879255513
LitVar	rs879255513
Map	rs879255513
PheGenI	rs879255513
Biobank	rs879255513
1000 genomes	rs879255513
hgdp	rs879255513
ensembl	rs879255513
geneview	rs879255513
scholar	rs879255513
google	rs879255513
pharmgkb	rs879255513
gwascentral	rs879255513
openSNP	rs879255513
23andMe	rs879255513
SNPshot	rs879255513
SNPdbe	rs879255513
MSV3d	rs879255513
GWAS Ctlg	rs879255513

Max Magnitude

0

ClinVar
Risk	rs879255513(-;-)
Alt	rs879255513(-;-)
Reference	Rs879255513(GA;GA)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy Autosomal dominant optic atrophy plus syndrome
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy Autosomal dominant optic atrophy plus syndrome
Reversed	0
HGVS	NC_000003.11:g.193409881_193409882delGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005397.2, RCV000023413.2,