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rs121965008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965008(C;C)
Make rs121965008(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42628169
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965008
dbSNP (classic)rs121965008
ClinGenrs121965008
ebirs121965008
HLIrs121965008
Exacrs121965008
Gnomadrs121965008
Varsomers121965008
LitVarrs121965008
Maprs121965008
PheGenIrs121965008
Biobankrs121965008
1000 genomesrs121965008
hgdprs121965008
ensemblrs121965008
geneviewrs121965008
scholarrs121965008
googlers121965008
pharmgkbrs121965008
gwascentralrs121965008
openSNPrs121965008
23andMers121965008
SNPshotrs121965008
SNPdbers121965008
MSV3drs121965008
GWAS Ctlgrs121965008
Max Magnitude0
OMIM613213
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121965008(C;C)
Alt rs121965008(C;C)
Reference Rs121965008(T;T)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43024175A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000260.2,