rs397508128
From SNPedia
Merged into | rs397508127 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
Make rs397508128(-;-) |
Make rs397508128(-;CTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2572893 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508128 |
dbSNP (classic) | rs397508128 |
ClinGen | rs397508128 |
ebi | rs397508128 |
HLI | rs397508128 |
Exac | rs397508128 |
Gnomad | rs397508128 |
Varsome | rs397508128 |
LitVar | rs397508128 |
Map | rs397508128 |
PheGenI | rs397508128 |
Biobank | rs397508128 |
1000 genomes | rs397508128 |
hgdp | rs397508128 |
ensembl | rs397508128 |
geneview | rs397508128 |
scholar | rs397508128 |
rs397508128 | |
pharmgkb | rs397508128 |
gwascentral | rs397508128 |
openSNP | rs397508128 |
23andMe | rs397508128 |
SNPshot | rs397508128 |
SNPdbe | rs397508128 |
MSV3d | rs397508128 |
GWAS Ctlg | rs397508128 |
Status | Merged into rs397508127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397508128(CTC;CTC) |
Significance | Pathogenic |
Disease | Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2594123_2594125delCTC |
CLNSRC | |
CLNACC | RCV000046139.2, RCV000046140.2, RCV000182333.2, RCV000239635.1, |