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rs121965017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs121965017(-;-)
Make rs121965017(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome22
Position42619911
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965017
dbSNP (classic)rs121965017
ClinGenrs121965017
ebirs121965017
HLIrs121965017
Exacrs121965017
Gnomadrs121965017
Varsomers121965017
LitVarrs121965017
Maprs121965017
PheGenIrs121965017
Biobankrs121965017
1000 genomesrs121965017
hgdprs121965017
ensemblrs121965017
geneviewrs121965017
scholarrs121965017
googlers121965017
pharmgkbrs121965017
gwascentralrs121965017
openSNPrs121965017
23andMers121965017
SNPshotrs121965017
SNPdbers121965017
MSV3drs121965017
GWAS Ctlgrs121965017
Max Magnitude0
OMIM613213
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121965017(-;-)
Alt rs121965017(-;-)
Reference Rs121965017(GAG;GAG)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43015917_43015919delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000275.3,