rs730880307
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs730880307(-;-) |
Make rs730880307(-;TA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178447554 |
Gene | PRKRA |
is a | snp |
is | mentioned by |
dbSNP | rs730880307 |
dbSNP (classic) | rs730880307 |
ClinGen | rs730880307 |
ebi | rs730880307 |
HLI | rs730880307 |
Exac | rs730880307 |
Gnomad | rs730880307 |
Varsome | rs730880307 |
LitVar | rs730880307 |
Map | rs730880307 |
PheGenI | rs730880307 |
Biobank | rs730880307 |
1000 genomes | rs730880307 |
hgdp | rs730880307 |
ensembl | rs730880307 |
geneview | rs730880307 |
scholar | rs730880307 |
rs730880307 | |
pharmgkb | rs730880307 |
gwascentral | rs730880307 |
openSNP | rs730880307 |
23andMe | rs730880307 |
SNPshot | rs730880307 |
SNPdbe | rs730880307 |
MSV3d | rs730880307 |
GWAS Ctlg | rs730880307 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880307(-;-) |
Alt | rs730880307(-;-) |
Reference | Rs730880307(TA;TA) |
Significance | Pathogenic |
Disease | Dystonia 16 |
Variation | info |
Gene | PRKRA |
CLNDBN | Dystonia 16 |
Reversed | 1 |
HGVS | NC_000002.11:g.179312281_179312282delTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006719.4, |