rs1057519630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057519630(C;T) |
Make rs1057519630(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2496552 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519630 |
dbSNP (classic) | rs1057519630 |
ClinGen | rs1057519630 |
ebi | rs1057519630 |
HLI | rs1057519630 |
Exac | rs1057519630 |
Gnomad | rs1057519630 |
Varsome | rs1057519630 |
LitVar | rs1057519630 |
Map | rs1057519630 |
PheGenI | rs1057519630 |
Biobank | rs1057519630 |
1000 genomes | rs1057519630 |
hgdp | rs1057519630 |
ensembl | rs1057519630 |
geneview | rs1057519630 |
scholar | rs1057519630 |
rs1057519630 | |
pharmgkb | rs1057519630 |
gwascentral | rs1057519630 |
openSNP | rs1057519630 |
23andMe | rs1057519630 |
SNPshot | rs1057519630 |
SNPdbe | rs1057519630 |
MSV3d | rs1057519630 |
GWAS Ctlg | rs1057519630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519630(T;T) |
Alt | rs1057519630(T;T) |
Reference | Rs1057519630(C;C) |
Significance | Pathogenic |
Disease | Parkinsonism Autosomal dominant epilepsy |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Parkinsonism Autosomal dominant epilepsy |
Reversed | 0 |
HGVS | NC_000016.9:g.2546553C>T |
CLNSRC | |
CLNACC | RCV000417201.1, RCV000417203.1, |