rs121908376

Orientation

plus

Stabilized

plus

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

Make rs121908376(A;G)

Make rs121908376(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193648109

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs121908376
dbSNP (classic)	rs121908376
ClinGen	rs121908376
ebi	rs121908376
HLI	rs121908376
Exac	rs121908376
Gnomad	rs121908376
Varsome	rs121908376
LitVar	rs121908376
Map	rs121908376
PheGenI	rs121908376
Biobank	rs121908376
1000 genomes	rs121908376
hgdp	rs121908376
ensembl	rs121908376
geneview	rs121908376
scholar	rs121908376
google	rs121908376
pharmgkb	rs121908376
gwascentral	rs121908376
openSNP	rs121908376
23andMe	rs121908376
SNPshot	rs121908376
SNPdbe	rs121908376
MSV3d	rs121908376
GWAS Ctlg	rs121908376

Max Magnitude

0

OMIM	605290
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908376(G;G)
Alt	rs121908376(G;G)
Reference	Rs121908376(A;A)
Significance	Pathogenic
Disease	Autosomal dominant optic atrophy plus syndrome
Variation	info
Gene	OPA1 LOC101929213
CLNDBN	Autosomal dominant optic atrophy plus syndrome
Reversed	0
HGVS	NC_000003.11:g.193365898A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005395.3,