rs1057519584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519584(A;A) |
Make rs1057519584(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 2572900 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519584 |
dbSNP (classic) | rs1057519584 |
ClinGen | rs1057519584 |
ebi | rs1057519584 |
HLI | rs1057519584 |
Exac | rs1057519584 |
Gnomad | rs1057519584 |
Varsome | rs1057519584 |
LitVar | rs1057519584 |
Map | rs1057519584 |
PheGenI | rs1057519584 |
Biobank | rs1057519584 |
1000 genomes | rs1057519584 |
hgdp | rs1057519584 |
ensembl | rs1057519584 |
geneview | rs1057519584 |
scholar | rs1057519584 |
rs1057519584 | |
pharmgkb | rs1057519584 |
gwascentral | rs1057519584 |
openSNP | rs1057519584 |
23andMe | rs1057519584 |
SNPshot | rs1057519584 |
SNPdbe | rs1057519584 |
MSV3d | rs1057519584 |
GWAS Ctlg | rs1057519584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519584(A;A) |
Alt | rs1057519584(A;A) |
Reference | Rs1057519584(T;T) |
Significance | Pathogenic |
Disease | Short QT syndrome 2 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Short QT syndrome 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.2594130T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000417068.1, |