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rs397514654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514654(C;C)
Make rs397514654(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position69278711
GeneHK1
is asnp
is mentioned by
dbSNPrs397514654
ebirs397514654
HLIrs397514654
Exacrs397514654
Varsomers397514654
Maprs397514654
PheGenIrs397514654
hapmaprs397514654
1000 genomesrs397514654
hgdprs397514654
ensemblrs397514654
gopubmedrs397514654
geneviewrs397514654
scholarrs397514654
googlers397514654
pharmgkbrs397514654
gwascentralrs397514654
openSNPrs397514654
23andMers397514654
23andMe allrs397514654
SNP Nexus

SNPshotrs397514654
SNPdbers397514654
MSV3drs397514654
GWAS Ctlgrs397514654
Max Magnitude0
ClinVar
Risk rs397514654(C;C)
Alt rs397514654(C;C)
Reference rs397514654(G;G)
Significance Pathogenic
Disease Neuropathy
Variation info
Gene HK1
CLNDBN Neuropathy, hereditary motor and sensory, russe type
Reversed 0
HGVS NC_000010.10:g.71038467G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033228.27,