Have questions? Visit https://www.reddit.com/r/SNPedia

rs371271054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs371271054(C;C)
Make rs371271054(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position144453621
GeneTPK1
is asnp
is mentioned by
dbSNPrs371271054
ebirs371271054
HLIrs371271054
Exacrs371271054
Varsomers371271054
Maprs371271054
PheGenIrs371271054
hapmaprs371271054
1000 genomesrs371271054
hgdprs371271054
ensemblrs371271054
gopubmedrs371271054
geneviewrs371271054
scholarrs371271054
googlers371271054
pharmgkbrs371271054
gwascentralrs371271054
openSNPrs371271054
23andMers371271054
23andMe allrs371271054
SNP Nexus

SNPshotrs371271054
SNPdbers371271054
MSV3drs371271054
GWAS Ctlgrs371271054
Max Magnitude0
ClinVar
Risk rs371271054(C;C)
Alt rs371271054(C;C)
Reference rs371271054(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 0
HGVS NC_000007.13:g.144150714T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023535.3,