rs786204778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204778(-;-) |
Make rs786204778(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2572891 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204778 |
dbSNP (classic) | rs786204778 |
ClinGen | rs786204778 |
ebi | rs786204778 |
HLI | rs786204778 |
Exac | rs786204778 |
Gnomad | rs786204778 |
Varsome | rs786204778 |
LitVar | rs786204778 |
Map | rs786204778 |
PheGenI | rs786204778 |
Biobank | rs786204778 |
1000 genomes | rs786204778 |
hgdp | rs786204778 |
ensembl | rs786204778 |
geneview | rs786204778 |
scholar | rs786204778 |
rs786204778 | |
pharmgkb | rs786204778 |
gwascentral | rs786204778 |
openSNP | rs786204778 |
23andMe | rs786204778 |
SNPshot | rs786204778 |
SNPdbe | rs786204778 |
MSV3d | rs786204778 |
GWAS Ctlg | rs786204778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204778(-;-) |
Alt | rs786204778(-;-) |
Reference | Rs786204778(T;T) |
Significance | Probable-Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2594121delT |
CLNSRC | |
CLNACC | RCV000169662.1, |