rs398124298

Orientation

plus

Stabilized

plus

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

Make rs398124298(A;A)

Make rs398124298(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193647110

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs398124298
dbSNP (classic)	rs398124298
ClinGen	rs398124298
ebi	rs398124298
HLI	rs398124298
Exac	rs398124298
Gnomad	rs398124298
Varsome	rs398124298
LitVar	rs398124298
Map	rs398124298
PheGenI	rs398124298
Biobank	rs398124298
1000 genomes	rs398124298
hgdp	rs398124298
ensembl	rs398124298
geneview	rs398124298
scholar	rs398124298
google	rs398124298
pharmgkb	rs398124298
gwascentral	rs398124298
openSNP	rs398124298
23andMe	rs398124298
SNPshot	rs398124298
SNPdbe	rs398124298
MSV3d	rs398124298
GWAS Ctlg	rs398124298

Max Magnitude

0

ClinVar
Risk	rs398124298(A;A) rs398124298(G;G)
Alt	rs398124298(A;A) rs398124298(G;G)
Reference	Rs398124298(C;C)
Significance	Pathogenic
Disease	not provided Dominant hereditary optic atrophy Autosomal dominant optic atrophy plus syndrome
Variation	info
Gene	OPA1 LOC101929213
CLNDBN	not provided Dominant hereditary optic atrophy Autosomal dominant optic atrophy plus syndrome
Reversed	0
HGVS	NC_000003.11:g.193364899C>A; NC_000003.11:g.193364899C>G
CLNSRC	HGMD UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000081752.3, RCV000175211.1, RCV000023415.3,