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rs121965009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965009(A;A)
Make rs121965009(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position42630899
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965009
dbSNP (classic)rs121965009
ClinGenrs121965009
ebirs121965009
HLIrs121965009
Exacrs121965009
Gnomadrs121965009
Varsomers121965009
LitVarrs121965009
Maprs121965009
PheGenIrs121965009
Biobankrs121965009
1000 genomesrs121965009
hgdprs121965009
ensemblrs121965009
geneviewrs121965009
scholarrs121965009
googlers121965009
pharmgkbrs121965009
gwascentralrs121965009
openSNPrs121965009
23andMers121965009
SNPshotrs121965009
SNPdbers121965009
MSV3drs121965009
GWAS Ctlgrs121965009
GMAF0.0004591
Max Magnitude0
OMIM613213
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121965009(A;A)
Alt rs121965009(A;A)
Reference Rs121965009(G;G)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43026905C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000261.2,