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rs137853249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853249(C;C)
Make rs137853249(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position69384348
GeneHK1
is asnp
is mentioned by
dbSNPrs137853249
ebirs137853249
HLIrs137853249
Exacrs137853249
Varsomers137853249
Maprs137853249
PheGenIrs137853249
hapmaprs137853249
1000 genomesrs137853249
hgdprs137853249
ensemblrs137853249
gopubmedrs137853249
geneviewrs137853249
scholarrs137853249
googlers137853249
pharmgkbrs137853249
gwascentralrs137853249
openSNPrs137853249
23andMers137853249
23andMe allrs137853249
SNP Nexus

SNPshotrs137853249
SNPdbers137853249
MSV3drs137853249
GWAS Ctlgrs137853249
Max Magnitude0
OMIM142600
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853249(C;C)
Alt rs137853249(C;C)
Reference rs137853249(T;T)
Significance Pathogenic
Disease Hemolytic anemia due to hexokinase deficiency
Variation info
Gene HK1
CLNDBN Hemolytic anemia due to hexokinase deficiency
Reversed 0
HGVS NC_000010.10:g.71144104T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016051.25,