rs199473381
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473381(G;T) |
Make rs199473381(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 70175605 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473381 |
dbSNP (classic) | rs199473381 |
ClinGen | rs199473381 |
ebi | rs199473381 |
HLI | rs199473381 |
Exac | rs199473381 |
Gnomad | rs199473381 |
Varsome | rs199473381 |
LitVar | rs199473381 |
Map | rs199473381 |
PheGenI | rs199473381 |
Biobank | rs199473381 |
1000 genomes | rs199473381 |
hgdp | rs199473381 |
ensembl | rs199473381 |
geneview | rs199473381 |
scholar | rs199473381 |
rs199473381 | |
pharmgkb | rs199473381 |
gwascentral | rs199473381 |
openSNP | rs199473381 |
23andMe | rs199473381 |
SNPshot | rs199473381 |
SNPdbe | rs199473381 |
MSV3d | rs199473381 |
GWAS Ctlg | rs199473381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473381(A;A) rs199473381(T;T) |
Alt | rs199473381(A;A) rs199473381(T;T) |
Reference | Rs199473381(G;G) |
Significance | Pathogenic |
Disease | not provided Congenital long QT syndrome |
Variation | info |
Gene | KCNJ2 |
CLNDBN | not provided Congenital long QT syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.68171746G>A; NC_000017.10:g.68171746G>T |
CLNSRC | ClinVar |
CLNACC | RCV000170980.2, RCV000058320.3, RCV000170981.2, |