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rs118204085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs118204085(A;A)
Make rs118204085(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position155262968
GenePKLR
is asnp
is mentioned by
dbSNPrs118204085
ebirs118204085
HLIrs118204085
Exacrs118204085
Varsomers118204085
Maprs118204085
PheGenIrs118204085
hapmaprs118204085
1000 genomesrs118204085
hgdprs118204085
ensemblrs118204085
gopubmedrs118204085
geneviewrs118204085
scholarrs118204085
googlers118204085
pharmgkbrs118204085
gwascentralrs118204085
openSNPrs118204085
23andMers118204085
23andMe allrs118204085
SNP Nexus

SNPshotrs118204085
SNPdbers118204085
MSV3drs118204085
GWAS Ctlgrs118204085
Max Magnitude0
OMIM609712
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118204085(A;A)
Alt rs118204085(A;A)
Reference rs118204085(G;G)
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.155262968C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001574.2,