rs386134163
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386134163(C;T) |
Make rs386134163(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53889708 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs386134163 |
dbSNP (classic) | rs386134163 |
ClinGen | rs386134163 |
ebi | rs386134163 |
HLI | rs386134163 |
Exac | rs386134163 |
Gnomad | rs386134163 |
Varsome | rs386134163 |
LitVar | rs386134163 |
Map | rs386134163 |
PheGenI | rs386134163 |
Biobank | rs386134163 |
1000 genomes | rs386134163 |
hgdp | rs386134163 |
ensembl | rs386134163 |
geneview | rs386134163 |
scholar | rs386134163 |
rs386134163 | |
pharmgkb | rs386134163 |
gwascentral | rs386134163 |
openSNP | rs386134163 |
23andMe | rs386134163 |
SNPshot | rs386134163 |
SNPdbe | rs386134163 |
MSV3d | rs386134163 |
GWAS Ctlg | rs386134163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134163(T;T) |
Alt | rs386134163(T;T) |
Reference | Rs386134163(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54392962C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034990.2, |
[PMID 16763984] Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.