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rs74315362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315362(C;T)
Make rs74315362(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155263347
GenePKLR
is asnp
is mentioned by
dbSNPrs74315362
ebirs74315362
HLIrs74315362
Exacrs74315362
Varsomers74315362
Maprs74315362
PheGenIrs74315362
hapmaprs74315362
1000 genomesrs74315362
hgdprs74315362
ensemblrs74315362
gopubmedrs74315362
geneviewrs74315362
scholarrs74315362
googlers74315362
pharmgkbrs74315362
gwascentralrs74315362
openSNPrs74315362
23andMers74315362
23andMe allrs74315362
SNP Nexus

SNPshotrs74315362
SNPdbers74315362
MSV3drs74315362
GWAS Ctlgrs74315362
Max Magnitude0
OMIM609712
Desc
Variant0003
Relatedalso
OMIM609712
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315362(T;T)
Alt rs74315362(T;T)
Reference rs74315362(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.155263347G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001572.3,