rs550921485
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.7 | Dystonia 2, torsion (DYT2) genotype |
(A;G) | 3 | Carrier of a dystonia (DYT2) mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 32893848 |
Gene | HPCA |
is a | snp |
is | mentioned by |
dbSNP | rs550921485 |
dbSNP (classic) | rs550921485 |
ClinGen | rs550921485 |
ebi | rs550921485 |
HLI | rs550921485 |
Exac | rs550921485 |
Gnomad | rs550921485 |
Varsome | rs550921485 |
LitVar | rs550921485 |
Map | rs550921485 |
PheGenI | rs550921485 |
Biobank | rs550921485 |
1000 genomes | rs550921485 |
hgdp | rs550921485 |
ensembl | rs550921485 |
geneview | rs550921485 |
scholar | rs550921485 |
rs550921485 | |
pharmgkb | rs550921485 |
gwascentral | rs550921485 |
openSNP | rs550921485 |
23andMe | rs550921485 |
SNPshot | rs550921485 |
SNPdbe | rs550921485 |
MSV3d | rs550921485 |
GWAS Ctlg | rs550921485 |
Max Magnitude | 5.7 |
aka c.568G>A, p.Ala190Thr or A190T
ClinVar | |
---|---|
Risk | Rs550921485(A;A) |
Alt | Rs550921485(A;A) |
Reference | Rs550921485(G;G) |
Significance | Pathogenic |
Disease | Dystonia 2 |
Variation | info |
Gene | HPCA |
CLNDBN | Dystonia 2, torsion, autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.33359449G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170354.3, |