rs34424986
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of an early-onset Parkinson's mutation |
(T;T) | 9 | Early-onset (juvenile) Parkinson's disease likely |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 161785820 |
Gene | PARK2 |
is a | snp |
is | mentioned by |
dbSNP | rs34424986 |
dbSNP (classic) | rs34424986 |
ClinGen | rs34424986 |
ebi | rs34424986 |
HLI | rs34424986 |
Exac | rs34424986 |
Gnomad | rs34424986 |
Varsome | rs34424986 |
LitVar | rs34424986 |
Map | rs34424986 |
PheGenI | rs34424986 |
Biobank | rs34424986 |
1000 genomes | rs34424986 |
hgdp | rs34424986 |
ensembl | rs34424986 |
geneview | rs34424986 |
scholar | rs34424986 |
rs34424986 | |
pharmgkb | rs34424986 |
gwascentral | rs34424986 |
openSNP | rs34424986 |
23andMe | rs34424986 |
SNPshot | rs34424986 |
SNPdbe | rs34424986 |
MSV3d | rs34424986 |
GWAS Ctlg | rs34424986 |
GMAF | 0.0004591 |
Max Magnitude | 9 |
c.823C>T (p.Arg275Trp)
ClinVar | |
---|---|
Risk | rs34424986(A;A) Rs34424986(T;T) |
Alt | rs34424986(A;A) Rs34424986(T;T) |
Reference | Rs34424986(C;C) |
Significance | Other |
Disease | Parkinson disease 2 Parkinson Disease |
Variation | info |
Gene | PARK2 |
CLNDBN | Parkinson disease 2 Parkinson Disease, Juvenile |
Reversed | 1 |
HGVS | NC_000006.11:g.162206852G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007466.3, RCV000272835.1, |