rs1057516497

Orientation

minus

Stabilized

minus

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

Make rs1057516497(A;G)

Make rs1057516497(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

45553515

Gene

OPA3

is a	snp
is	mentioned by
dbSNP	rs1057516497
dbSNP (classic)	rs1057516497
ClinGen	rs1057516497
ebi	rs1057516497
HLI	rs1057516497
Exac	rs1057516497
Gnomad	rs1057516497
Varsome	rs1057516497
LitVar	rs1057516497
Map	rs1057516497
PheGenI	rs1057516497
Biobank	rs1057516497
1000 genomes	rs1057516497
hgdp	rs1057516497
ensembl	rs1057516497
geneview	rs1057516497
scholar	rs1057516497
google	rs1057516497
pharmgkb	rs1057516497
gwascentral	rs1057516497
openSNP	rs1057516497
23andMe	rs1057516497
SNPshot	rs1057516497
SNPdbe	rs1057516497
MSV3d	rs1057516497
GWAS Ctlg	rs1057516497

Max Magnitude

0

ClinVar
Risk	rs1057516497(G;G)
Alt	rs1057516497(G;G)
Reference	Rs1057516497(A;A)
Significance	Probable-Pathogenic
Disease	3-Methylglutaconic aciduria type 3
Variation	info
Gene	OPA3
CLNDBN	3-Methylglutaconic aciduria type 3
Reversed	1
HGVS	NC_000019.9:g.46056773T>C
CLNSRC
CLNACC	RCV000410015.1,