rs371271054

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs371271054(C;C)

Make rs371271054(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

144453621

Gene

TPK1

is a	snp
is	mentioned by
dbSNP	rs371271054
dbSNP (classic)	rs371271054
ClinGen	rs371271054
ebi	rs371271054
HLI	rs371271054
Exac	rs371271054
Gnomad	rs371271054
Varsome	rs371271054
LitVar	rs371271054
Map	rs371271054
PheGenI	rs371271054
Biobank	rs371271054
1000 genomes	rs371271054
hgdp	rs371271054
ensembl	rs371271054
geneview	rs371271054
scholar	rs371271054
google	rs371271054
pharmgkb	rs371271054
gwascentral	rs371271054
openSNP	rs371271054
23andMe	rs371271054
SNPshot	rs371271054
SNPdbe	rs371271054
MSV3d	rs371271054
GWAS Ctlg	rs371271054

Max Magnitude

0

ClinVar
Risk	rs371271054(C;C)
Alt	rs371271054(C;C)
Reference	Rs371271054(T;T)
Significance	Pathogenic
Disease	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) not provided
Variation	info
Gene	TPK1
CLNDBN	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) not provided
Reversed	0
HGVS	NC_000007.13:g.144150714T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023535.3, RCV000437841.1,