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rs121965018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965018(A;G)
Make rs121965018(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position42623803
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965018
dbSNP (classic)rs121965018
ClinGenrs121965018
ebirs121965018
HLIrs121965018
Exacrs121965018
Gnomadrs121965018
Varsomers121965018
LitVarrs121965018
Maprs121965018
PheGenIrs121965018
Biobankrs121965018
1000 genomesrs121965018
hgdprs121965018
ensemblrs121965018
geneviewrs121965018
scholarrs121965018
googlers121965018
pharmgkbrs121965018
gwascentralrs121965018
openSNPrs121965018
23andMers121965018
SNPshotrs121965018
SNPdbers121965018
MSV3drs121965018
GWAS Ctlgrs121965018
Max Magnitude0
OMIM613213
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121965018(G;G)
Alt rs121965018(G;G)
Reference Rs121965018(A;A)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43019809T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000276.2,