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rs118204089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs118204089(A;A)
Make rs118204089(A;C)
ReferenceGRCh37 37.1/132
Chromosome1
Position155265346
GenePKLR
is asnp
is mentioned by
dbSNPrs118204089
ebirs118204089
HLIrs118204089
Exacrs118204089
Varsomers118204089
Maprs118204089
PheGenIrs118204089
hapmaprs118204089
1000 genomesrs118204089
hgdprs118204089
ensemblrs118204089
gopubmedrs118204089
geneviewrs118204089
scholarrs118204089
googlers118204089
pharmgkbrs118204089
gwascentralrs118204089
openSNPrs118204089
23andMers118204089
23andMe allrs118204089
SNP Nexus

SNPshotrs118204089
SNPdbers118204089
MSV3drs118204089
GWAS Ctlgrs118204089
Max Magnitude0
OMIM609712
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118204089(A;A)
Alt rs118204089(A;A)
Reference rs118204089(C;C)
Significance Pathogenic
Disease Pyruvate kinase deficiency of red cells
Variation info
Gene PKLR
CLNDBN Pyruvate kinase deficiency of red cells
Reversed 1
HGVS NC_000001.10:g.155265346G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001578.2,