rs794728580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCATCGGTGAG;TCATCGGTGAG) | 0 | common in clinvar |
Make rs794728580(-;-) |
Make rs794728580(-;CGGTGAGTCAT) |
Make rs794728580(CGGTGAGTCAT;CGGTGAGTCAT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2570753 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728580 |
dbSNP (classic) | rs794728580 |
ClinGen | rs794728580 |
ebi | rs794728580 |
HLI | rs794728580 |
Exac | rs794728580 |
Gnomad | rs794728580 |
Varsome | rs794728580 |
LitVar | rs794728580 |
Map | rs794728580 |
PheGenI | rs794728580 |
Biobank | rs794728580 |
1000 genomes | rs794728580 |
hgdp | rs794728580 |
ensembl | rs794728580 |
geneview | rs794728580 |
scholar | rs794728580 |
rs794728580 | |
pharmgkb | rs794728580 |
gwascentral | rs794728580 |
openSNP | rs794728580 |
23andMe | rs794728580 |
SNPshot | rs794728580 |
SNPdbe | rs794728580 |
MSV3d | rs794728580 |
GWAS Ctlg | rs794728580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728580(-;-) |
Alt | rs794728580(-;-) |
Reference | Rs794728580(TCATCGGTGAG;TCATCGGTGAG) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2591983_2591993delCGGTGAGTCAT |
CLNSRC | |
CLNACC | RCV000182331.2, |