rs372250159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372250159(C;T) |
Make rs372250159(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 2395343 |
Gene | TGM6 |
is a | snp |
is | mentioned by |
dbSNP | rs372250159 |
dbSNP (classic) | rs372250159 |
ClinGen | rs372250159 |
ebi | rs372250159 |
HLI | rs372250159 |
Exac | rs372250159 |
Gnomad | rs372250159 |
Varsome | rs372250159 |
LitVar | rs372250159 |
Map | rs372250159 |
PheGenI | rs372250159 |
Biobank | rs372250159 |
1000 genomes | rs372250159 |
hgdp | rs372250159 |
ensembl | rs372250159 |
geneview | rs372250159 |
scholar | rs372250159 |
rs372250159 | |
pharmgkb | rs372250159 |
gwascentral | rs372250159 |
openSNP | rs372250159 |
23andMe | rs372250159 |
SNPshot | rs372250159 |
SNPdbe | rs372250159 |
MSV3d | rs372250159 |
GWAS Ctlg | rs372250159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372250159(T;T) |
Alt | rs372250159(T;T) |
Reference | Rs372250159(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 35 |
Variation | info |
Gene | TGM6 |
CLNDBN | Spinocerebellar ataxia 35 |
Reversed | 0 |
HGVS | NC_000020.10:g.2375989C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170474.3, |