rs431905504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Infantile Parkinsonism-dystonia |
(A;G) | 3 | Carrier of an infantile Parkinsonism-dystonia mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 1411242 |
Gene | SLC6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs431905504 |
dbSNP (classic) | rs431905504 |
ClinGen | rs431905504 |
ebi | rs431905504 |
HLI | rs431905504 |
Exac | rs431905504 |
Gnomad | rs431905504 |
Varsome | rs431905504 |
LitVar | rs431905504 |
Map | rs431905504 |
PheGenI | rs431905504 |
Biobank | rs431905504 |
1000 genomes | rs431905504 |
hgdp | rs431905504 |
ensembl | rs431905504 |
geneview | rs431905504 |
scholar | rs431905504 |
rs431905504 | |
pharmgkb | rs431905504 |
gwascentral | rs431905504 |
openSNP | rs431905504 |
23andMe | rs431905504 |
SNPshot | rs431905504 |
SNPdbe | rs431905504 |
MSV3d | rs431905504 |
GWAS Ctlg | rs431905504 |
Max Magnitude | 8 |
c.1269+1G>A
ClinVar | |
---|---|
Risk | Rs431905504(A;A) |
Alt | Rs431905504(A;A) |
Reference | Rs431905504(G;G) |
Significance | Pathogenic |
Disease | Infantile Parkinsonism-dystonia not provided |
Variation | info |
Gene | SLC6A3 |
CLNDBN | Infantile Parkinsonism-dystonia not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.1411357C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022531.29, RCV000493130.1, |