rs1057519457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519457(A;T) |
Make rs1057519457(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 35033599 |
Gene | SCN1B |
is a | snp |
is | mentioned by |
dbSNP | rs1057519457 |
dbSNP (classic) | rs1057519457 |
ClinGen | rs1057519457 |
ebi | rs1057519457 |
HLI | rs1057519457 |
Exac | rs1057519457 |
Gnomad | rs1057519457 |
Varsome | rs1057519457 |
LitVar | rs1057519457 |
Map | rs1057519457 |
PheGenI | rs1057519457 |
Biobank | rs1057519457 |
1000 genomes | rs1057519457 |
hgdp | rs1057519457 |
ensembl | rs1057519457 |
geneview | rs1057519457 |
scholar | rs1057519457 |
rs1057519457 | |
pharmgkb | rs1057519457 |
gwascentral | rs1057519457 |
openSNP | rs1057519457 |
23andMe | rs1057519457 |
SNPshot | rs1057519457 |
SNPdbe | rs1057519457 |
MSV3d | rs1057519457 |
GWAS Ctlg | rs1057519457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519457(T;T) |
Alt | rs1057519457(T;T) |
Reference | Rs1057519457(A;A) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | SCN1B |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000019.9:g.35524503A>T |
CLNSRC | |
CLNACC | RCV000416448.1, |