rs869320761
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320761(-;CAGA) |
Make rs869320761(CAGA;CAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 62013058 |
Gene | VPS13C |
is a | snp |
is | mentioned by |
dbSNP | rs869320761 |
dbSNP (classic) | rs869320761 |
ClinGen | rs869320761 |
ebi | rs869320761 |
HLI | rs869320761 |
Exac | rs869320761 |
Gnomad | rs869320761 |
Varsome | rs869320761 |
LitVar | rs869320761 |
Map | rs869320761 |
PheGenI | rs869320761 |
Biobank | rs869320761 |
1000 genomes | rs869320761 |
hgdp | rs869320761 |
ensembl | rs869320761 |
geneview | rs869320761 |
scholar | rs869320761 |
rs869320761 | |
pharmgkb | rs869320761 |
gwascentral | rs869320761 |
openSNP | rs869320761 |
23andMe | rs869320761 |
SNPshot | rs869320761 |
SNPdbe | rs869320761 |
MSV3d | rs869320761 |
GWAS Ctlg | rs869320761 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320761(CAGA;CAGA) |
Alt | rs869320761(CAGA;CAGA) |
Reference | Rs869320761(-;-) |
Significance | Pathogenic |
Disease | Parkinson disease 23 |
Variation | info |
Gene | VPS13C |
CLNDBN | Parkinson disease 23, autosomal recessive early-onset |
Reversed | 1 |
HGVS | NC_000015.9:g.62305258_62305261dupTCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210223.1, |