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rs121965013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965013(C;C)
Make rs121965013(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42631386
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965013
dbSNP (classic)rs121965013
ClinGenrs121965013
ebirs121965013
HLIrs121965013
Exacrs121965013
Gnomadrs121965013
Varsomers121965013
LitVarrs121965013
Maprs121965013
PheGenIrs121965013
Biobankrs121965013
1000 genomesrs121965013
hgdprs121965013
ensemblrs121965013
geneviewrs121965013
scholarrs121965013
googlers121965013
pharmgkbrs121965013
gwascentralrs121965013
openSNPrs121965013
23andMers121965013
SNPshotrs121965013
SNPdbers121965013
MSV3drs121965013
GWAS Ctlgrs121965013
Max Magnitude0
OMIM613213
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121965013(C;C)
Alt rs121965013(C;C)
Reference Rs121965013(T;T)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43027392A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000270.3,