Have questions? Visit https://www.reddit.com/r/SNPedia

rs121965014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965014(C;T)
Make rs121965014(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42630986
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs121965014
dbSNP (classic)rs121965014
ClinGenrs121965014
ebirs121965014
HLIrs121965014
Exacrs121965014
Gnomadrs121965014
Varsomers121965014
LitVarrs121965014
Maprs121965014
PheGenIrs121965014
Biobankrs121965014
1000 genomesrs121965014
hgdprs121965014
ensemblrs121965014
geneviewrs121965014
scholarrs121965014
googlers121965014
pharmgkbrs121965014
gwascentralrs121965014
openSNPrs121965014
23andMers121965014
SNPshotrs121965014
SNPdbers121965014
MSV3drs121965014
GWAS Ctlgrs121965014
Max Magnitude0
OMIM613213
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121965014(T;T)
Alt rs121965014(T;T)
Reference Rs121965014(C;C)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 1
HGVS NC_000022.10:g.43026992G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000271.3,