rs869312811
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869312811(-;-) |
Make rs869312811(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 61947292 |
Gene | VPS13C |
is a | snp |
is | mentioned by |
dbSNP | rs869312811 |
dbSNP (classic) | rs869312811 |
ClinGen | rs869312811 |
ebi | rs869312811 |
HLI | rs869312811 |
Exac | rs869312811 |
Gnomad | rs869312811 |
Varsome | rs869312811 |
LitVar | rs869312811 |
Map | rs869312811 |
PheGenI | rs869312811 |
Biobank | rs869312811 |
1000 genomes | rs869312811 |
hgdp | rs869312811 |
ensembl | rs869312811 |
geneview | rs869312811 |
scholar | rs869312811 |
rs869312811 | |
pharmgkb | rs869312811 |
gwascentral | rs869312811 |
openSNP | rs869312811 |
23andMe | rs869312811 |
SNPshot | rs869312811 |
SNPdbe | rs869312811 |
MSV3d | rs869312811 |
GWAS Ctlg | rs869312811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312811(-;-) |
Alt | rs869312811(-;-) |
Reference | Rs869312811(C;C) |
Significance | Pathogenic |
Disease | Parkinson disease 23 Parkinson disease |
Variation | info |
Gene | VPS13C |
CLNDBN | Parkinson disease 23, autosomal recessive early-onset Parkinson disease |
Reversed | 1 |
HGVS | NC_000015.9:g.62239491delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210222.1, RCV000235403.1, |