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rs121965012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs121965012(-;-)
Make rs121965012(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome22
Position42619782
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965012
dbSNP (classic)rs121965012
ClinGenrs121965012
ebirs121965012
HLIrs121965012
Exacrs121965012
Gnomadrs121965012
Varsomers121965012
LitVarrs121965012
Maprs121965012
PheGenIrs121965012
Biobankrs121965012
1000 genomesrs121965012
hgdprs121965012
ensemblrs121965012
geneviewrs121965012
scholarrs121965012
googlers121965012
pharmgkbrs121965012
gwascentralrs121965012
openSNPrs121965012
23andMers121965012
SNPshotrs121965012
SNPdbers121965012
MSV3drs121965012
GWAS Ctlgrs121965012
Max Magnitude0
OMIM613213
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121965012(-;-)
Alt rs121965012(-;-)
Reference Rs121965012(TTC;TTC)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43015788_43015790delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000267.2,