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rs794728013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794728013(A;C)
Make rs794728013(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position42627690
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs794728013
dbSNP (classic)rs794728013
ClinGenrs794728013
ebirs794728013
HLIrs794728013
Exacrs794728013
Gnomadrs794728013
Varsomers794728013
LitVarrs794728013
Maprs794728013
PheGenIrs794728013
Biobankrs794728013
1000 genomesrs794728013
hgdprs794728013
ensemblrs794728013
geneviewrs794728013
scholarrs794728013
googlers794728013
pharmgkbrs794728013
gwascentralrs794728013
openSNPrs794728013
23andMers794728013
SNPshotrs794728013
SNPdbers794728013
MSV3drs794728013
GWAS Ctlgrs794728013
Max Magnitude0
ClinVar
Risk rs794728013(C;C)
Alt rs794728013(C;C)
Reference Rs794728013(A;A)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43023696T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000269.2,