rs727504060

Orientation

plus

Stabilized

plus

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

Make rs727504060(G;G)

Make rs727504060(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

193643419

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs727504060
dbSNP (classic)	rs727504060
ClinGen	rs727504060
ebi	rs727504060
HLI	rs727504060
Exac	rs727504060
Gnomad	rs727504060
Varsome	rs727504060
LitVar	rs727504060
Map	rs727504060
PheGenI	rs727504060
Biobank	rs727504060
1000 genomes	rs727504060
hgdp	rs727504060
ensembl	rs727504060
geneview	rs727504060
scholar	rs727504060
google	rs727504060
pharmgkb	rs727504060
gwascentral	rs727504060
openSNP	rs727504060
23andMe	rs727504060
SNPshot	rs727504060
SNPdbe	rs727504060
MSV3d	rs727504060
GWAS Ctlg	rs727504060

Max Magnitude

0

ClinVar
Risk	rs727504060(A;A) rs727504060(G;G)
Alt	rs727504060(A;A) rs727504060(G;G)
Reference	Rs727504060(T;T)
Significance	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.193361208T>A; NC_000003.11:g.193361208T>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000200712.1, RCV000153621.3,