rs386134158
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386134158(C;C) |
Make rs386134158(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53882616 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs386134158 |
dbSNP (classic) | rs386134158 |
ClinGen | rs386134158 |
ebi | rs386134158 |
HLI | rs386134158 |
Exac | rs386134158 |
Gnomad | rs386134158 |
Varsome | rs386134158 |
LitVar | rs386134158 |
Map | rs386134158 |
PheGenI | rs386134158 |
Biobank | rs386134158 |
1000 genomes | rs386134158 |
hgdp | rs386134158 |
ensembl | rs386134158 |
geneview | rs386134158 |
scholar | rs386134158 |
rs386134158 | |
pharmgkb | rs386134158 |
gwascentral | rs386134158 |
openSNP | rs386134158 |
23andMe | rs386134158 |
SNPshot | rs386134158 |
SNPdbe | rs386134158 |
MSV3d | rs386134158 |
GWAS Ctlg | rs386134158 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134158(C;C) |
Alt | rs386134158(C;C) |
Reference | Rs386134158(G;G) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54385870G>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034959.1, |
[PMID 15824357] The clinical and genetic spectrum of spinocerebellar ataxia 14.