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rs118204083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs118204083(C;T)
Make rs118204083(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155265248
GenePKLR
is asnp
is mentioned by
dbSNPrs118204083
ebirs118204083
HLIrs118204083
Exacrs118204083
Varsomers118204083
Maprs118204083
PheGenIrs118204083
hapmaprs118204083
1000 genomesrs118204083
hgdprs118204083
ensemblrs118204083
gopubmedrs118204083
geneviewrs118204083
scholarrs118204083
googlers118204083
pharmgkbrs118204083
gwascentralrs118204083
openSNPrs118204083
23andMers118204083
23andMe allrs118204083
SNP Nexus

SNPshotrs118204083
SNPdbers118204083
MSV3drs118204083
GWAS Ctlgrs118204083
Max Magnitude0
OMIM609712
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204083(T;T)
Alt rs118204083(T;T)
Reference rs118204083(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.155265248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001571.2,