rs138350727

Orientation

plus

Stabilized

plus

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

Make rs138350727(G;T)

Make rs138350727(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193626153

Gene	OPA1, OPA1-AS1

is a	snp
is	mentioned by
dbSNP	rs138350727
dbSNP (classic)	rs138350727
ClinGen	rs138350727
ebi	rs138350727
HLI	rs138350727
Exac	rs138350727
Gnomad	rs138350727
Varsome	rs138350727
LitVar	rs138350727
Map	rs138350727
PheGenI	rs138350727
Biobank	rs138350727
1000 genomes	rs138350727
hgdp	rs138350727
ensembl	rs138350727
geneview	rs138350727
scholar	rs138350727
google	rs138350727
pharmgkb	rs138350727
gwascentral	rs138350727
openSNP	rs138350727
23andMe	rs138350727
SNPshot	rs138350727
SNPdbe	rs138350727
MSV3d	rs138350727
GWAS Ctlg	rs138350727

Max Magnitude

0

ClinVar
Risk	rs138350727(A;A) rs138350727(T;T)
Alt	rs138350727(A;A) rs138350727(T;T)
Reference	Rs138350727(G;G)
Significance	Pathogenic
Disease	Dominant hereditary optic atrophy
Variation	info
Gene	OPA1 OPA1-AS1
CLNDBN	Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193343942G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055988.1,