rs371271054
From SNPedia
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 |
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, |