rs200108320
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200108320(C;T) |
Make rs200108320(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2570740 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs200108320 |
dbSNP (classic) | rs200108320 |
ClinGen | rs200108320 |
ebi | rs200108320 |
HLI | rs200108320 |
Exac | rs200108320 |
Gnomad | rs200108320 |
Varsome | rs200108320 |
LitVar | rs200108320 |
Map | rs200108320 |
PheGenI | rs200108320 |
Biobank | rs200108320 |
1000 genomes | rs200108320 |
hgdp | rs200108320 |
ensembl | rs200108320 |
geneview | rs200108320 |
scholar | rs200108320 |
rs200108320 | |
pharmgkb | rs200108320 |
gwascentral | rs200108320 |
openSNP | rs200108320 |
23andMe | rs200108320 |
SNPshot | rs200108320 |
SNPdbe | rs200108320 |
MSV3d | rs200108320 |
GWAS Ctlg | rs200108320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200108320(T;T) |
Alt | rs200108320(T;T) |
Reference | Rs200108320(C;C) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.2591970C>T |
CLNSRC | |
CLNACC | RCV000171669.1, RCV000182090.3, |