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rs199476129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476129(A;A)
Make rs199476129(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position5920
GeneMT-TC
is asnp
is mentioned by
dbSNPrs199476129
ebirs199476129
HLIrs199476129
Exacrs199476129
Varsomers199476129
Maprs199476129
PheGenIrs199476129
hapmaprs199476129
1000 genomesrs199476129
hgdprs199476129
ensemblrs199476129
gopubmedrs199476129
geneviewrs199476129
scholarrs199476129
googlers199476129
pharmgkbrs199476129
gwascentralrs199476129
openSNPrs199476129
23andMers199476129
23andMe allrs199476129
SNP Nexus

SNPshotrs199476129
SNPdbers199476129
MSV3drs199476129
GWAS Ctlgrs199476129
Max Magnitude0
ClinVar
Risk rs199476129(A;A)
Alt rs199476129(A;A)
Reference rs199476129(G;G)
Significance Pathogenic
Disease Myoglobinuria
Variation info
Gene COX1
CLNDBN Myoglobinuria, recurrent
Reversed 0
HGVS NC_012920.1:m.5920G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010307.2,