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rs116100695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs116100695(A;A)
Make rs116100695(A;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155261709
GenePKLR
is asnp
is mentioned by
dbSNPrs116100695
ebirs116100695
HLIrs116100695
Exacrs116100695
Varsomers116100695
Maprs116100695
PheGenIrs116100695
hapmaprs116100695
1000 genomesrs116100695
hgdprs116100695
ensemblrs116100695
gopubmedrs116100695
geneviewrs116100695
scholarrs116100695
googlers116100695
pharmgkbrs116100695
gwascentralrs116100695
openSNPrs116100695
23andMers116100695
23andMe allrs116100695
SNP Nexus

SNPshotrs116100695
SNPdbers116100695
MSV3drs116100695
GWAS Ctlgrs116100695
GMAF0.003214
Max Magnitude0
OMIM609712
Desc
Variant0009
Relatedalso
ClinVar
Risk rs116100695(A;A)
Alt rs116100695(A;A)
Reference rs116100695(G;G)
Significance Other
Disease Pyruvate kinase deficiency of red cells
Variation info
Gene PKLR
CLNDBN Pyruvate kinase deficiency of red cells
Reversed 0
HGVS NC_000001.10:g.155261709G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001577.2,