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rs201953584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201953584(A;A)
Make rs201953584(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position155294726
GenePKLR
is asnp
is mentioned by
dbSNPrs201953584
dbSNP (old)rs201953584
ClinGenrs201953584
ebirs201953584
HLIrs201953584
Exacrs201953584
Gnomadrs201953584
Varsomers201953584
LitVarrs201953584
Maprs201953584
PheGenIrs201953584
Biobankrs201953584
1000 genomesrs201953584
hgdprs201953584
ensemblrs201953584
gopubmedrs201953584
geneviewrs201953584
scholarrs201953584
googlers201953584
pharmgkbrs201953584
gwascentralrs201953584
openSNPrs201953584
23andMers201953584
23andMe allrs201953584
SNPshotrs201953584
SNPdbers201953584
MSV3drs201953584
GWAS Ctlgrs201953584
Max Magnitude0
ClinVar
Risk rs201953584(A;A)
Alt rs201953584(A;A)
Reference Rs201953584(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.155264517C>A
CLNSRC Illumina
CLNACC RCV000261579.1, RCV000295664.1,