rs730882065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTG;TCTG) | 0 | common in clinvar |
Make rs730882065(-;-) |
Make rs730882065(-;TCTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 29813568 |
Gene | PRRT2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882065 |
dbSNP (classic) | rs730882065 |
ClinGen | rs730882065 |
ebi | rs730882065 |
HLI | rs730882065 |
Exac | rs730882065 |
Gnomad | rs730882065 |
Varsome | rs730882065 |
LitVar | rs730882065 |
Map | rs730882065 |
PheGenI | rs730882065 |
Biobank | rs730882065 |
1000 genomes | rs730882065 |
hgdp | rs730882065 |
ensembl | rs730882065 |
geneview | rs730882065 |
scholar | rs730882065 |
rs730882065 | |
pharmgkb | rs730882065 |
gwascentral | rs730882065 |
openSNP | rs730882065 |
23andMe | rs730882065 |
SNPshot | rs730882065 |
SNPdbe | rs730882065 |
MSV3d | rs730882065 |
GWAS Ctlg | rs730882065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882065(-;-) |
Alt | rs730882065(-;-) |
Reference | Rs730882065(TCTG;TCTG) |
Significance | Pathogenic |
Disease | Dystonia 10 |
Variation | info |
Gene | LOC100289283 PRRT2 |
CLNDBN | Dystonia 10 |
Reversed | 0 |
HGVS | NC_000016.9:g.29824889_29824892delTCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024167.4, |