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rs118204084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs118204084(A;A)
Make rs118204084(A;C)
ReferenceGRCh37 37.1/132
Chromosome1
Position155263237
GenePKLR
is asnp
is mentioned by
dbSNPrs118204084
ebirs118204084
HLIrs118204084
Exacrs118204084
Varsomers118204084
Maprs118204084
PheGenIrs118204084
hapmaprs118204084
1000 genomesrs118204084
hgdprs118204084
ensemblrs118204084
gopubmedrs118204084
geneviewrs118204084
scholarrs118204084
googlers118204084
pharmgkbrs118204084
gwascentralrs118204084
openSNPrs118204084
23andMers118204084
23andMe allrs118204084
SNP Nexus

SNPshotrs118204084
SNPdbers118204084
MSV3drs118204084
GWAS Ctlgrs118204084
Max Magnitude0
OMIM609712
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204084(A;A)
Alt rs118204084(A;A)
Reference rs118204084(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.155263237G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001573.2,