rs878853157
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853157(-;-) |
Make rs878853157(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 77211004 |
Gene | PDE8B |
is a | snp |
is | mentioned by |
dbSNP | rs878853157 |
dbSNP (classic) | rs878853157 |
ClinGen | rs878853157 |
ebi | rs878853157 |
HLI | rs878853157 |
Exac | rs878853157 |
Gnomad | rs878853157 |
Varsome | rs878853157 |
LitVar | rs878853157 |
Map | rs878853157 |
PheGenI | rs878853157 |
Biobank | rs878853157 |
1000 genomes | rs878853157 |
hgdp | rs878853157 |
ensembl | rs878853157 |
geneview | rs878853157 |
scholar | rs878853157 |
rs878853157 | |
pharmgkb | rs878853157 |
gwascentral | rs878853157 |
openSNP | rs878853157 |
23andMe | rs878853157 |
SNPshot | rs878853157 |
SNPdbe | rs878853157 |
MSV3d | rs878853157 |
GWAS Ctlg | rs878853157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853157(-;-) |
Alt | rs878853157(-;-) |
Reference | Rs878853157(C;C) |
Significance | Pathogenic |
Disease | Striatal degeneration |
Variation | info |
Gene | PDE8B |
CLNDBN | Striatal degeneration, autosomal dominant 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.76506829delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224988.1, |