rs386134161
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACAAAC;ACAAAC) | 0 | common in clinvar |
Make rs386134161(-;-) |
Make rs386134161(-;ACAAAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53889648 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs386134161 |
dbSNP (classic) | rs386134161 |
ClinGen | rs386134161 |
ebi | rs386134161 |
HLI | rs386134161 |
Exac | rs386134161 |
Gnomad | rs386134161 |
Varsome | rs386134161 |
LitVar | rs386134161 |
Map | rs386134161 |
PheGenI | rs386134161 |
Biobank | rs386134161 |
1000 genomes | rs386134161 |
hgdp | rs386134161 |
ensembl | rs386134161 |
geneview | rs386134161 |
scholar | rs386134161 |
rs386134161 | |
pharmgkb | rs386134161 |
gwascentral | rs386134161 |
openSNP | rs386134161 |
23andMe | rs386134161 |
SNPshot | rs386134161 |
SNPdbe | rs386134161 |
MSV3d | rs386134161 |
GWAS Ctlg | rs386134161 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134161(-;-) |
Alt | rs386134161(-;-) |
Reference | Rs386134161(ACAAAC;ACAAAC) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54392902_54392907delACAAAC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034984.2, |
[PMID 15824357] The clinical and genetic spectrum of spinocerebellar ataxia 14.