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rs794728011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728011(G;T)
Make rs794728011(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position42619946
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs794728011
dbSNP (classic)rs794728011
ClinGenrs794728011
ebirs794728011
HLIrs794728011
Exacrs794728011
Gnomadrs794728011
Varsomers794728011
LitVarrs794728011
Maprs794728011
PheGenIrs794728011
Biobankrs794728011
1000 genomesrs794728011
hgdprs794728011
ensemblrs794728011
geneviewrs794728011
scholarrs794728011
googlers794728011
pharmgkbrs794728011
gwascentralrs794728011
openSNPrs794728011
23andMers794728011
SNPshotrs794728011
SNPdbers794728011
MSV3drs794728011
GWAS Ctlgrs794728011
Max Magnitude0
ClinVar
Risk rs794728011(T;T)
Alt rs794728011(T;T)
Reference Rs794728011(G;G)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43015952C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000262.2,