rs397518439
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of an early-onset Parkinson's mutation |
(T;T) | 9 | Early-onset (juvenile) Parkinson's disease likely |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 162727661 |
Gene | PACRG, PARK2 |
is a | snp |
is | mentioned by |
dbSNP | rs397518439 |
dbSNP (classic) | rs397518439 |
ClinGen | rs397518439 |
ebi | rs397518439 |
HLI | rs397518439 |
Exac | rs397518439 |
Gnomad | rs397518439 |
Varsome | rs397518439 |
LitVar | rs397518439 |
Map | rs397518439 |
PheGenI | rs397518439 |
Biobank | rs397518439 |
1000 genomes | rs397518439 |
hgdp | rs397518439 |
ensembl | rs397518439 |
geneview | rs397518439 |
scholar | rs397518439 |
rs397518439 | |
pharmgkb | rs397518439 |
gwascentral | rs397518439 |
openSNP | rs397518439 |
23andMe | rs397518439 |
SNPshot | rs397518439 |
SNPdbe | rs397518439 |
MSV3d | rs397518439 |
GWAS Ctlg | rs397518439 |
Max Magnitude | 9 |
c.7+1G>T
ClinVar | |
---|---|
Risk | Rs397518439(T;T) |
Alt | Rs397518439(T;T) |
Reference | Rs397518439(G;G) |
Significance | Pathogenic |
Disease | Parkinson disease 2 |
Variation | info |
Gene | PACRG PARK2 |
CLNDBN | Parkinson disease 2 |
Reversed | 1 |
HGVS | NC_000006.11:g.163148693C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007469.4, |