rs879255511

Orientation

plus

Stabilized

plus

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

Make rs879255511(-;-)

Make rs879255511(-;CAT)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

193643611

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs879255511
dbSNP (classic)	rs879255511
ClinGen	rs879255511
ebi	rs879255511
HLI	rs879255511
Exac	rs879255511
Gnomad	rs879255511
Varsome	rs879255511
LitVar	rs879255511
Map	rs879255511
PheGenI	rs879255511
Biobank	rs879255511
1000 genomes	rs879255511
hgdp	rs879255511
ensembl	rs879255511
geneview	rs879255511
scholar	rs879255511
google	rs879255511
pharmgkb	rs879255511
gwascentral	rs879255511
openSNP	rs879255511
23andMe	rs879255511
SNPshot	rs879255511
SNPdbe	rs879255511
MSV3d	rs879255511
GWAS Ctlg	rs879255511

Max Magnitude

0

ClinVar
Risk	rs879255511(-;-)
Alt	rs879255511(-;-)
Reference	Rs879255511(CAT;CAT)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy
Variation	info
Gene	OPA1
CLNDBN	Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193361400_193361402delCAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005391.3,