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rs121965016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965016(A;A)
Make rs121965016(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position42619804
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965016
dbSNP (classic)rs121965016
ClinGenrs121965016
ebirs121965016
HLIrs121965016
Exacrs121965016
Gnomadrs121965016
Varsomers121965016
LitVarrs121965016
Maprs121965016
PheGenIrs121965016
Biobankrs121965016
1000 genomesrs121965016
hgdprs121965016
ensemblrs121965016
geneviewrs121965016
scholarrs121965016
googlers121965016
pharmgkbrs121965016
gwascentralrs121965016
openSNPrs121965016
23andMers121965016
SNPshotrs121965016
SNPdbers121965016
MSV3drs121965016
GWAS Ctlgrs121965016
Max Magnitude0
OMIM613213
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121965016(A;A)
Alt rs121965016(A;A)
Reference Rs121965016(G;G)
Significance Pathogenic
Disease Methemoglobinemia
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia, type I
Reversed 1
HGVS NC_000022.10:g.43015810C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000274.3,