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rs794728012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATG;ATG) 0 common in clinvar
Make rs794728012(-;-)
Make rs794728012(-;ATG)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position42619860
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs794728012
dbSNP (classic)rs794728012
ClinGenrs794728012
ebirs794728012
HLIrs794728012
Exacrs794728012
Gnomadrs794728012
Varsomers794728012
LitVarrs794728012
Maprs794728012
PheGenIrs794728012
Biobankrs794728012
1000 genomesrs794728012
hgdprs794728012
ensemblrs794728012
geneviewrs794728012
scholarrs794728012
googlers794728012
pharmgkbrs794728012
gwascentralrs794728012
openSNPrs794728012
23andMers794728012
SNPshotrs794728012
SNPdbers794728012
MSV3drs794728012
GWAS Ctlgrs794728012
Max Magnitude0
ClinVar
Risk rs794728012(-;-)
Alt rs794728012(-;-)
Reference Rs794728012(ATG;ATG)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43015866_43015868delCAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000266.3,