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rs200872504

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200872504(C;T)
Make rs200872504(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position42628144
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs200872504
ebirs200872504
HLIrs200872504
Exacrs200872504
Varsomers200872504
Maprs200872504
PheGenIrs200872504
hapmaprs200872504
1000 genomesrs200872504
hgdprs200872504
ensemblrs200872504
gopubmedrs200872504
geneviewrs200872504
scholarrs200872504
googlers200872504
pharmgkbrs200872504
gwascentralrs200872504
openSNPrs200872504
23andMers200872504
23andMe allrs200872504
SNP Nexus

SNPshotrs200872504
SNPdbers200872504
MSV3drs200872504
GWAS Ctlgrs200872504
Max Magnitude0
ClinVar
Risk rs200872504(T;T)
Alt rs200872504(T;T)
Reference rs200872504(C;C)
Significance Pathogenic
Disease Methemoglobinemia type 2
Variation info
Gene CYB5R3
CLNDBN Methemoglobinemia type 2
Reversed 0
HGVS NC_000022.10:g.43024150C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000263.2,