rs146349901
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146349901(C;T) |
Make rs146349901(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 72888378 |
Gene | SPR |
is a | snp |
is | mentioned by |
dbSNP | rs146349901 |
dbSNP (classic) | rs146349901 |
ClinGen | rs146349901 |
ebi | rs146349901 |
HLI | rs146349901 |
Exac | rs146349901 |
Gnomad | rs146349901 |
Varsome | rs146349901 |
LitVar | rs146349901 |
Map | rs146349901 |
PheGenI | rs146349901 |
Biobank | rs146349901 |
1000 genomes | rs146349901 |
hgdp | rs146349901 |
ensembl | rs146349901 |
geneview | rs146349901 |
scholar | rs146349901 |
rs146349901 | |
pharmgkb | rs146349901 |
gwascentral | rs146349901 |
openSNP | rs146349901 |
23andMe | rs146349901 |
SNPshot | rs146349901 |
SNPdbe | rs146349901 |
MSV3d | rs146349901 |
GWAS Ctlg | rs146349901 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146349901(T;T) |
Alt | rs146349901(T;T) |
Reference | Rs146349901(C;C) |
Significance | Pathogenic |
Disease | not provided Dystonia |
Variation | info |
Gene | SPR |
CLNDBN | not provided Dystonia, dopa-responsive Dystonia |
Reversed | 0 |
HGVS | NC_000002.11:g.73115507C>G; NC_000002.11:g.73115507C>T |
CLNSRC | |
CLNACC | RCV000494407.1, RCV000297483.1, RCV000461424.1, |