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rs121965015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965015(A;A)
Make rs121965015(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position42627326
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965015
dbSNP (classic)rs121965015
ClinGenrs121965015
ebirs121965015
HLIrs121965015
Exacrs121965015
Gnomadrs121965015
Varsomers121965015
LitVarrs121965015
Maprs121965015
PheGenIrs121965015
Biobankrs121965015
1000 genomesrs121965015
hgdprs121965015
ensemblrs121965015
geneviewrs121965015
scholarrs121965015
googlers121965015
pharmgkbrs121965015
gwascentralrs121965015
openSNPrs121965015
23andMers121965015
SNPshotrs121965015
SNPdbers121965015
MSV3drs121965015
GWAS Ctlgrs121965015
Max Magnitude0
OMIM613213
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121965015(A;A)
Alt rs121965015(A;A)
Reference Rs121965015(G;G)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43023332C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000273.2,