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rs1057516497

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516497(A;G)
Make rs1057516497(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position45553515
GeneOPA3
is asnp
is mentioned by
dbSNPrs1057516497
dbSNP (old)rs1057516497
ClinGenrs1057516497
ebirs1057516497
HLIrs1057516497
Exacrs1057516497
Gnomadrs1057516497
Varsomers1057516497
Maprs1057516497
PheGenIrs1057516497
Biobankrs1057516497
1000 genomesrs1057516497
hgdprs1057516497
ensemblrs1057516497
gopubmedrs1057516497
geneviewrs1057516497
scholarrs1057516497
googlers1057516497
pharmgkbrs1057516497
gwascentralrs1057516497
openSNPrs1057516497
23andMers1057516497
23andMe allrs1057516497
SNPshotrs1057516497
SNPdbers1057516497
MSV3drs1057516497
GWAS Ctlgrs1057516497
Max Magnitude0
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,