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rs398122379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122379(C;G)
Make rs398122379(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position69392128
GeneHK1
is asnp
is mentioned by
dbSNPrs398122379
dbSNP (classic)rs398122379
ClinGenrs398122379
ebirs398122379
HLIrs398122379
Exacrs398122379
Gnomadrs398122379
Varsomers398122379
LitVarrs398122379
Maprs398122379
PheGenIrs398122379
Biobankrs398122379
1000 genomesrs398122379
hgdprs398122379
ensemblrs398122379
geneviewrs398122379
scholarrs398122379
googlers398122379
pharmgkbrs398122379
gwascentralrs398122379
openSNPrs398122379
23andMers398122379
SNPshotrs398122379
SNPdbers398122379
MSV3drs398122379
GWAS Ctlgrs398122379
Max Magnitude0
ClinVar
Risk rs398122379(G;G)
Alt rs398122379(G;G)
Reference Rs398122379(C;C)
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.71151884C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049268.26,