rs794729196

Orientation

plus

Stabilized

plus

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

Make rs794729196(-;-)

Make rs794729196(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

193644008

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs794729196
dbSNP (classic)	rs794729196
ClinGen	rs794729196
ebi	rs794729196
HLI	rs794729196
Exac	rs794729196
Gnomad	rs794729196
Varsome	rs794729196
LitVar	rs794729196
Map	rs794729196
PheGenI	rs794729196
Biobank	rs794729196
1000 genomes	rs794729196
hgdp	rs794729196
ensembl	rs794729196
geneview	rs794729196
scholar	rs794729196
google	rs794729196
pharmgkb	rs794729196
gwascentral	rs794729196
openSNP	rs794729196
23andMe	rs794729196
SNPshot	rs794729196
SNPdbe	rs794729196
MSV3d	rs794729196
GWAS Ctlg	rs794729196

Max Magnitude

0

ClinVar
Risk	rs794729196(-;-)
Alt	rs794729196(-;-)
Reference	Rs794729196(C;C)
Significance	Probable-Pathogenic
Disease	Autosomal dominant optic atrophy plus syndrome
Variation	info
Gene	OPA1
CLNDBN	Autosomal dominant optic atrophy plus syndrome
Reversed	0
HGVS	NC_000003.11:g.193361797delC
CLNSRC
CLNACC	RCV000184014.1,