rs78437096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs78437096(G;G) |
Make rs78437096(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53906876 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs78437096 |
dbSNP (classic) | rs78437096 |
ClinGen | rs78437096 |
ebi | rs78437096 |
HLI | rs78437096 |
Exac | rs78437096 |
Gnomad | rs78437096 |
Varsome | rs78437096 |
LitVar | rs78437096 |
Map | rs78437096 |
PheGenI | rs78437096 |
Biobank | rs78437096 |
1000 genomes | rs78437096 |
hgdp | rs78437096 |
ensembl | rs78437096 |
geneview | rs78437096 |
scholar | rs78437096 |
rs78437096 | |
pharmgkb | rs78437096 |
gwascentral | rs78437096 |
openSNP | rs78437096 |
23andMe | rs78437096 |
SNPshot | rs78437096 |
SNPdbe | rs78437096 |
MSV3d | rs78437096 |
GWAS Ctlg | rs78437096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78437096(C;C) rs78437096(G;G) |
Alt | rs78437096(C;C) rs78437096(G;G) |
Reference | Rs78437096(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54410130T>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034972.2, |
[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.