rs141117135
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141117135(C;T) |
Make rs141117135(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150947639 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs141117135 |
dbSNP (classic) | rs141117135 |
ClinGen | rs141117135 |
ebi | rs141117135 |
HLI | rs141117135 |
Exac | rs141117135 |
Gnomad | rs141117135 |
Varsome | rs141117135 |
LitVar | rs141117135 |
Map | rs141117135 |
PheGenI | rs141117135 |
Biobank | rs141117135 |
1000 genomes | rs141117135 |
hgdp | rs141117135 |
ensembl | rs141117135 |
geneview | rs141117135 |
scholar | rs141117135 |
rs141117135 | |
pharmgkb | rs141117135 |
gwascentral | rs141117135 |
openSNP | rs141117135 |
23andMe | rs141117135 |
SNPshot | rs141117135 |
SNPdbe | rs141117135 |
MSV3d | rs141117135 |
GWAS Ctlg | rs141117135 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141117135(A;A) rs141117135(T;T) |
Alt | rs141117135(A;A) rs141117135(T;T) |
Reference | Rs141117135(C;C) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.150644727C>A; NC_000007.13:g.150644727C>T |
CLNSRC | |
CLNACC | RCV000181885.2, RCV000058180.3, RCV000421078.1, |