rs121908375

Orientation

plus

Stabilized

plus

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

Make rs121908375(A;A)

Make rs121908375(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193637280

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs121908375
dbSNP (classic)	rs121908375
ClinGen	rs121908375
ebi	rs121908375
HLI	rs121908375
Exac	rs121908375
Gnomad	rs121908375
Varsome	rs121908375
LitVar	rs121908375
Map	rs121908375
PheGenI	rs121908375
Biobank	rs121908375
1000 genomes	rs121908375
hgdp	rs121908375
ensembl	rs121908375
geneview	rs121908375
scholar	rs121908375
google	rs121908375
pharmgkb	rs121908375
gwascentral	rs121908375
openSNP	rs121908375
23andMe	rs121908375
SNPshot	rs121908375
SNPdbe	rs121908375
MSV3d	rs121908375
GWAS Ctlg	rs121908375

Max Magnitude

0

OMIM	605290
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908375(A;A)
Alt	rs121908375(A;A)
Reference	Rs121908375(G;G)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy not provided
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy not provided
Reversed	0
HGVS	NC_000003.11:g.193355069G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005389.4, RCV000081771.3,