rs143929819

Orientation

plus

Stabilized

plus

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

Make rs143929819(A;G)

Make rs143929819(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

193692127

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs143929819
dbSNP (classic)	rs143929819
ClinGen	rs143929819
ebi	rs143929819
HLI	rs143929819
Exac	rs143929819
Gnomad	rs143929819
Varsome	rs143929819
LitVar	rs143929819
Map	rs143929819
PheGenI	rs143929819
Biobank	rs143929819
1000 genomes	rs143929819
hgdp	rs143929819
ensembl	rs143929819
geneview	rs143929819
scholar	rs143929819
google	rs143929819
pharmgkb	rs143929819
gwascentral	rs143929819
openSNP	rs143929819
23andMe	rs143929819
SNPshot	rs143929819
SNPdbe	rs143929819
MSV3d	rs143929819
GWAS Ctlg	rs143929819

Max Magnitude

0

ClinVar
Risk	rs143929819(C;C) rs143929819(G;G)
Alt	rs143929819(C;C) rs143929819(G;G)
Reference	Rs143929819(A;A)
Significance	Probable-Pathogenic
Disease	not provided Dominant hereditary optic atrophy
Variation	info
Gene	OPA1
CLNDBN	not provided Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193409916A>C
CLNSRC	HGMD
CLNACC	RCV000153624.2, RCV000176886.1,