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rs113403872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs113403872(C;T)
Make rs113403872(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155261636
GenePKLR
is asnp
is mentioned by
dbSNPrs113403872
ebirs113403872
HLIrs113403872
Exacrs113403872
Varsomers113403872
Maprs113403872
PheGenIrs113403872
hapmaprs113403872
1000 genomesrs113403872
hgdprs113403872
ensemblrs113403872
gopubmedrs113403872
geneviewrs113403872
scholarrs113403872
googlers113403872
pharmgkbrs113403872
gwascentralrs113403872
openSNPrs113403872
23andMers113403872
23andMe allrs113403872
SNP Nexus

SNPshotrs113403872
SNPdbers113403872
MSV3drs113403872
GWAS Ctlgrs113403872
GMAF0.0004591
Max Magnitude0
OMIM609712
Desc
Variant0007
Relatedalso
ClinVar
Risk rs113403872(T;T)
Alt rs113403872(T;T)
Reference rs113403872(C;C)
Significance Pathogenic
Disease Pyruvate kinase deficiency of red cells not provided
Variation info
Gene PKLR
CLNDBN Pyruvate kinase deficiency of red cells not provided
Reversed 0
HGVS NC_000001.10:g.155261636C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001575.2, RCV000224660.1,