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rs121965011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965011(C;C)
Make rs121965011(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42627327
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965011
dbSNP (classic)rs121965011
ClinGenrs121965011
ebirs121965011
HLIrs121965011
Exacrs121965011
Gnomadrs121965011
Varsomers121965011
LitVarrs121965011
Maprs121965011
PheGenIrs121965011
Biobankrs121965011
1000 genomesrs121965011
hgdprs121965011
ensemblrs121965011
geneviewrs121965011
scholarrs121965011
googlers121965011
pharmgkbrs121965011
gwascentralrs121965011
openSNPrs121965011
23andMers121965011
SNPshotrs121965011
SNPdbers121965011
MSV3drs121965011
GWAS Ctlgrs121965011
Max Magnitude0
OMIM613213
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121965011(C;C)
Alt rs121965011(C;C)
Reference Rs121965011(T;T)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43023333A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000265.3,