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rs387906935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906935(A;C)
Make rs387906935(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position144682946
GeneTPK1
is asnp
is mentioned by
dbSNPrs387906935
ebirs387906935
HLIrs387906935
Exacrs387906935
Varsomers387906935
Maprs387906935
PheGenIrs387906935
hapmaprs387906935
1000 genomesrs387906935
hgdprs387906935
ensemblrs387906935
gopubmedrs387906935
geneviewrs387906935
scholarrs387906935
googlers387906935
pharmgkbrs387906935
gwascentralrs387906935
openSNPrs387906935
23andMers387906935
23andMe allrs387906935
SNP Nexus

SNPshotrs387906935
SNPdbers387906935
MSV3drs387906935
GWAS Ctlgrs387906935
Max Magnitude0
ClinVar
Risk rs387906935(C;C)
Alt rs387906935(C;C)
Reference rs387906935(A;A)
Significance Pathogenic
Disease Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Variation info
Gene TPK1
CLNDBN Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Reversed 1
HGVS NC_000007.13:g.144380039T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023531.2,