rs104893753

Orientation

plus

Stabilized

plus

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

Make rs104893753(C;T)

Make rs104893753(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193643005

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs104893753
dbSNP (classic)	rs104893753
ClinGen	rs104893753
ebi	rs104893753
HLI	rs104893753
Exac	rs104893753
Gnomad	rs104893753
Varsome	rs104893753
LitVar	rs104893753
Map	rs104893753
PheGenI	rs104893753
Biobank	rs104893753
1000 genomes	rs104893753
hgdp	rs104893753
ensembl	rs104893753
geneview	rs104893753
scholar	rs104893753
google	rs104893753
pharmgkb	rs104893753
gwascentral	rs104893753
openSNP	rs104893753
23andMe	rs104893753
SNPshot	rs104893753
SNPdbe	rs104893753
MSV3d	rs104893753
GWAS Ctlg	rs104893753

Max Magnitude

0

OMIM	605290
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893753(T;T)
Alt	rs104893753(T;T)
Reference	Rs104893753(C;C)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy not provided
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy not provided
Reversed	0
HGVS	NC_000003.11:g.193360794C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000005390.3, RCV000081746.3,