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rs121965007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965007(A;A)
Make rs121965007(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position42631431
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965007
dbSNP (classic)rs121965007
ClinGenrs121965007
ebirs121965007
HLIrs121965007
Exacrs121965007
Gnomadrs121965007
Varsomers121965007
LitVarrs121965007
Maprs121965007
PheGenIrs121965007
Biobankrs121965007
1000 genomesrs121965007
hgdprs121965007
ensemblrs121965007
geneviewrs121965007
scholarrs121965007
googlers121965007
pharmgkbrs121965007
gwascentralrs121965007
openSNPrs121965007
23andMers121965007
SNPshotrs121965007
SNPdbers121965007
MSV3drs121965007
GWAS Ctlgrs121965007
Max Magnitude0
OMIM613213
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121965007(A;A)
Alt rs121965007(A;A)
Reference Rs121965007(G;G)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43027437C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000259.2,