rs398124299

Orientation

plus

Stabilized

plus

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

Make rs398124299(C;T)

Make rs398124299(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193647144

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs398124299
dbSNP (classic)	rs398124299
ClinGen	rs398124299
ebi	rs398124299
HLI	rs398124299
Exac	rs398124299
Gnomad	rs398124299
Varsome	rs398124299
LitVar	rs398124299
Map	rs398124299
PheGenI	rs398124299
Biobank	rs398124299
1000 genomes	rs398124299
hgdp	rs398124299
ensembl	rs398124299
geneview	rs398124299
scholar	rs398124299
google	rs398124299
pharmgkb	rs398124299
gwascentral	rs398124299
openSNP	rs398124299
23andMe	rs398124299
SNPshot	rs398124299
SNPdbe	rs398124299
MSV3d	rs398124299
GWAS Ctlg	rs398124299

Max Magnitude

0

ClinVar
Risk	rs398124299(T;T)
Alt	rs398124299(T;T)
Reference	Rs398124299(C;C)
Significance	Pathogenic
Disease	not provided Dominant hereditary optic atrophy
Variation	info
Gene	OPA1 LOC101929213
CLNDBN	not provided Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193364933C>T
CLNSRC	HGMD
CLNACC	RCV000081753.5, RCV000175210.1,