rs121434512
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.8 | paroxysmal nonkinesigenic dyskinesia |
Make rs121434512(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 218270555 |
Gene | AAMP, PNKD |
is a | snp |
is | mentioned by |
dbSNP | rs121434512 |
dbSNP (classic) | rs121434512 |
ClinGen | rs121434512 |
ebi | rs121434512 |
HLI | rs121434512 |
Exac | rs121434512 |
Gnomad | rs121434512 |
Varsome | rs121434512 |
LitVar | rs121434512 |
Map | rs121434512 |
PheGenI | rs121434512 |
Biobank | rs121434512 |
1000 genomes | rs121434512 |
hgdp | rs121434512 |
ensembl | rs121434512 |
geneview | rs121434512 |
scholar | rs121434512 |
rs121434512 | |
pharmgkb | rs121434512 |
gwascentral | rs121434512 |
openSNP | rs121434512 |
23andMe | rs121434512 |
SNPshot | rs121434512 |
SNPdbe | rs121434512 |
MSV3d | rs121434512 |
GWAS Ctlg | rs121434512 |
Max Magnitude | 5.8 |
aka c.20C>T (p.Ala7Val or A7V)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant paroxysmal nonkinesigenic dyskinesia
See also OMIM 609023.0002
ClinVar | |
---|---|
Risk | rs121434512(T;T) |
Alt | rs121434512(T;T) |
Reference | Rs121434512(C;C) |
Significance | Pathogenic |
Disease | Paroxysmal choreoathetosis |
Variation | info |
Gene | AAMP PNKD |
CLNDBN | Paroxysmal choreoathetosis |
Reversed | 0 |
HGVS | NC_000002.11:g.219135278C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001970.2, |