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rs1057516064

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516064(A;A)
Make rs1057516064(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9237
GeneCOX3
is asnp
is mentioned by
dbSNPrs1057516064
dbSNP (old)rs1057516064
ClinGenrs1057516064
ebirs1057516064
HLIrs1057516064
Exacrs1057516064
Gnomadrs1057516064
Varsomers1057516064
Maprs1057516064
PheGenIrs1057516064
Biobankrs1057516064
1000 genomesrs1057516064
hgdprs1057516064
ensemblrs1057516064
gopubmedrs1057516064
geneviewrs1057516064
scholarrs1057516064
googlers1057516064
pharmgkbrs1057516064
gwascentralrs1057516064
openSNPrs1057516064
23andMers1057516064
23andMe allrs1057516064
SNPshotrs1057516064
SNPdbers1057516064
MSV3drs1057516064
GWAS Ctlgrs1057516064
Max Magnitude0
ClinVar
Risk rs1057516064(A;A)
Alt rs1057516064(A;A)
Reference Rs1057516064(G;G)
Significance Probable-Pathogenic
Disease Developmental delay Mitochondrial encephalopathy Seizure Disorders
Variation info
Gene COX3
CLNDBN Developmental delay Mitochondrial encephalopathy Seizure Disorders
Reversed 0
HGVS NC_012920.1:m.9237G>A
CLNSRC
CLNACC RCV000408945.1,