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rs387906936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906936(C;C)
Make rs387906936(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position144682975
GeneTPK1
is asnp
is mentioned by
dbSNPrs387906936
ebirs387906936
HLIrs387906936
Exacrs387906936
Varsomers387906936
Maprs387906936
PheGenIrs387906936
hapmaprs387906936
1000 genomesrs387906936
hgdprs387906936
ensemblrs387906936
gopubmedrs387906936
geneviewrs387906936
scholarrs387906936
googlers387906936
pharmgkbrs387906936
gwascentralrs387906936
openSNPrs387906936
23andMers387906936
23andMe allrs387906936
SNP Nexus

SNPshotrs387906936
SNPdbers387906936
MSV3drs387906936
GWAS Ctlgrs387906936
Max Magnitude0
ClinVar
Risk rs387906936(C;C)
Alt rs387906936(C;C)
Reference rs387906936(T;T)
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.144380068A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023533.3,