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rs267606612

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TCGCAGGATTTTTCT;TCGCAGGATTTTTCT) 0 common in clinvar
(TTTTTCTTCGCAGGA;TTTTTCTTCGCAGGA) 0 common in clinvar
Make rs267606612(-;-)
Make rs267606612(-;TCGCAGGATTTTTCT)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9487
GeneCOX3
is asnp
is mentioned by
dbSNPrs267606612
dbSNP (old)rs267606612
ClinGenrs267606612
ebirs267606612
HLIrs267606612
Exacrs267606612
Gnomadrs267606612
Varsomers267606612
Maprs267606612
PheGenIrs267606612
Biobankrs267606612
1000 genomesrs267606612
hgdprs267606612
ensemblrs267606612
gopubmedrs267606612
geneviewrs267606612
scholarrs267606612
googlers267606612
pharmgkbrs267606612
gwascentralrs267606612
openSNPrs267606612
23andMers267606612
23andMe allrs267606612
SNP Nexus

SNPshotrs267606612
SNPdbers267606612
MSV3drs267606612
GWAS Ctlgrs267606612
Max Magnitude0
ClinVar
Risk rs267606612(-;-)
Alt rs267606612(-;-)
Reference Rs267606612(TTTTTCTTCGCAGGA;TTTTTCTTCGCAGGA)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency with recurrent myoglobinuria
Variation info
Gene COX3
CLNDBN Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency with recurrent myoglobinuria
Reversed 0
HGVS NC_012920.1:m.9487_9501delTCGCAGGATTTTTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010289.2, RCV000010290.4,