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rs199476126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476126(C;C)
Make rs199476126(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position6742
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476126
ebirs199476126
HLIrs199476126
Exacrs199476126
Varsomers199476126
Maprs199476126
PheGenIrs199476126
hapmaprs199476126
1000 genomesrs199476126
hgdprs199476126
ensemblrs199476126
gopubmedrs199476126
geneviewrs199476126
scholarrs199476126
googlers199476126
pharmgkbrs199476126
gwascentralrs199476126
openSNPrs199476126
23andMers199476126
23andMe allrs199476126
SNP Nexus

SNPshotrs199476126
SNPdbers199476126
MSV3drs199476126
GWAS Ctlgrs199476126
Max Magnitude0
ClinVar
Risk rs199476126(C;C)
Alt rs199476126(C;C)
Reference rs199476126(T;T)
Significance Pathogenic
Disease Sideroblastic anemia
Variation info
Gene COX1
CLNDBN Sideroblastic anemia, acquired idiopathic
Reversed 0
HGVS NC_012920.1:m.6742T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010302.2,