rs397508079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397508079(-;T) |
Make rs397508079(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2587590 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508079 |
dbSNP (classic) | rs397508079 |
ClinGen | rs397508079 |
ebi | rs397508079 |
HLI | rs397508079 |
Exac | rs397508079 |
Gnomad | rs397508079 |
Varsome | rs397508079 |
LitVar | rs397508079 |
Map | rs397508079 |
PheGenI | rs397508079 |
Biobank | rs397508079 |
1000 genomes | rs397508079 |
hgdp | rs397508079 |
ensembl | rs397508079 |
geneview | rs397508079 |
scholar | rs397508079 |
rs397508079 | |
pharmgkb | rs397508079 |
gwascentral | rs397508079 |
openSNP | rs397508079 |
23andMe | rs397508079 |
SNPshot | rs397508079 |
SNPdbe | rs397508079 |
MSV3d | rs397508079 |
GWAS Ctlg | rs397508079 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508079(T;T) |
Alt | rs397508079(T;T) |
Reference | Rs397508079(-;-) |
Significance | Untested |
Disease | Jervell and Lange-Nielsen syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2608820dupT |
CLNSRC | ClinVar |
CLNACC | RCV000045969.2, |