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rs199476127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476127(C;C)
Make rs199476127(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position6721
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476127
ebirs199476127
HLIrs199476127
Exacrs199476127
Varsomers199476127
Maprs199476127
PheGenIrs199476127
hapmaprs199476127
1000 genomesrs199476127
hgdprs199476127
ensemblrs199476127
gopubmedrs199476127
geneviewrs199476127
scholarrs199476127
googlers199476127
pharmgkbrs199476127
gwascentralrs199476127
openSNPrs199476127
23andMers199476127
23andMe allrs199476127
SNP Nexus

SNPshotrs199476127
SNPdbers199476127
MSV3drs199476127
GWAS Ctlgrs199476127
Max Magnitude0
ClinVar
Risk rs199476127(C;C)
Alt rs199476127(C;C)
Reference rs199476127(T;T)
Significance Pathogenic
Disease Sideroblastic anemia
Variation info
Gene COX1
CLNDBN Sideroblastic anemia, acquired idiopathic
Reversed 0
HGVS NC_012920.1:m.6721T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010303.2,