rs397508129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CGCGGTGAACGAGTCAGGC;CGCGGTGAACGAGTCAGGC) | 0 | common in clinvar |
(GTGAACGAGTCAGGCCGCG;GTGAACGAGTCAGGCCGCG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397508129(-;-) |
Make rs397508129(-;GTGAACGAGTCAGGCCGCG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572927 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508129 |
dbSNP (classic) | rs397508129 |
ClinGen | rs397508129 |
ebi | rs397508129 |
HLI | rs397508129 |
Exac | rs397508129 |
Gnomad | rs397508129 |
Varsome | rs397508129 |
LitVar | rs397508129 |
Map | rs397508129 |
PheGenI | rs397508129 |
Biobank | rs397508129 |
1000 genomes | rs397508129 |
hgdp | rs397508129 |
ensembl | rs397508129 |
geneview | rs397508129 |
scholar | rs397508129 |
rs397508129 | |
pharmgkb | rs397508129 |
gwascentral | rs397508129 |
openSNP | rs397508129 |
23andMe | rs397508129 |
SNPshot | rs397508129 |
SNPdbe | rs397508129 |
MSV3d | rs397508129 |
GWAS Ctlg | rs397508129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508129(-;-) |
Alt | rs397508129(-;-) |
Reference | Rs397508129(CGCGGTGAACGAGTCAGGC;CGCGGTGAACGAGTCAGGC) |
Significance | Pathogenic |
Disease | Long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2594157_2594175del19 |
CLNSRC | ClinVar |
CLNACC | RCV000046145.2, RCV000182271.2, |