rs190235251

Orientation

plus

Stabilized

plus

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

Make rs190235251(C;T)

Make rs190235251(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

193659547

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs190235251
dbSNP (classic)	rs190235251
ClinGen	rs190235251
ebi	rs190235251
HLI	rs190235251
Exac	rs190235251
Gnomad	rs190235251
Varsome	rs190235251
LitVar	rs190235251
Map	rs190235251
PheGenI	rs190235251
Biobank	rs190235251
1000 genomes	rs190235251
hgdp	rs190235251
ensembl	rs190235251
geneview	rs190235251
scholar	rs190235251
google	rs190235251
pharmgkb	rs190235251
gwascentral	rs190235251
openSNP	rs190235251
23andMe	rs190235251
SNPshot	rs190235251
SNPdbe	rs190235251
MSV3d	rs190235251
GWAS Ctlg	rs190235251

Max Magnitude

0

ClinVar
Risk	rs190235251(G;G) rs190235251(T;T)
Alt	rs190235251(G;G) rs190235251(T;T)
Reference	Rs190235251(C;C)
Significance	Pathogenic
Disease	not provided Optic Atrophy
Variation	info
Gene	OPA1 LOC101929213
CLNDBN	not provided Optic Atrophy, Dominant
Reversed	0
HGVS	NC_000003.11:g.193377336C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000195741.1, RCV000287680.1,