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rs121965006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965006(C;C)
Make rs121965006(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42628233
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965006
dbSNP (classic)rs121965006
ClinGenrs121965006
ebirs121965006
HLIrs121965006
Exacrs121965006
Gnomadrs121965006
Varsomers121965006
LitVarrs121965006
Maprs121965006
PheGenIrs121965006
Biobankrs121965006
1000 genomesrs121965006
hgdprs121965006
ensemblrs121965006
geneviewrs121965006
scholarrs121965006
googlers121965006
pharmgkbrs121965006
gwascentralrs121965006
openSNPrs121965006
23andMers121965006
SNPshotrs121965006
SNPdbers121965006
MSV3drs121965006
GWAS Ctlgrs121965006
Max Magnitude0
OMIM613213
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121965006(C;C)
Alt rs121965006(C;C)
Reference Rs121965006(T;T)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43024239A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000258.2,