rs1060500626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTGGAGGCT;CCTGGAGGCT) | 0 | common in clinvar |
Make rs1060500626(-;-) |
Make rs1060500626(-;AGGCTCCTGG) |
Make rs1060500626(AGGCTCCTGG;AGGCTCCTGG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 2572074 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500626 |
dbSNP (classic) | rs1060500626 |
ClinGen | rs1060500626 |
ebi | rs1060500626 |
HLI | rs1060500626 |
Exac | rs1060500626 |
Gnomad | rs1060500626 |
Varsome | rs1060500626 |
LitVar | rs1060500626 |
Map | rs1060500626 |
PheGenI | rs1060500626 |
Biobank | rs1060500626 |
1000 genomes | rs1060500626 |
hgdp | rs1060500626 |
ensembl | rs1060500626 |
geneview | rs1060500626 |
scholar | rs1060500626 |
rs1060500626 | |
pharmgkb | rs1060500626 |
gwascentral | rs1060500626 |
openSNP | rs1060500626 |
23andMe | rs1060500626 |
SNPshot | rs1060500626 |
SNPdbe | rs1060500626 |
MSV3d | rs1060500626 |
GWAS Ctlg | rs1060500626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500626(-;-) |
Alt | rs1060500626(-;-) |
Reference | Rs1060500626(CCTGGAGGCT;CCTGGAGGCT) |
Significance | Pathogenic |
Disease | Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2593304_2593313delAGGCTCCTGG |
CLNSRC | |
CLNACC | RCV000460244.1, |