rs794728438
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;ATCGACATGGTGGCCGCCATCCCCTTC) | 5 | Romano-Ward Long QT Syndrome |
(ATCGACATGGTGGCCGCCATCCCCTTC;ATCGACATGGTGGCCGCCATCCCCTTC) | 0 | common in clinvar |
Make rs794728438(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150952458 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728438 |
dbSNP (classic) | rs794728438 |
ClinGen | rs794728438 |
ebi | rs794728438 |
HLI | rs794728438 |
Exac | rs794728438 |
Gnomad | rs794728438 |
Varsome | rs794728438 |
LitVar | rs794728438 |
Map | rs794728438 |
PheGenI | rs794728438 |
Biobank | rs794728438 |
1000 genomes | rs794728438 |
hgdp | rs794728438 |
ensembl | rs794728438 |
geneview | rs794728438 |
scholar | rs794728438 |
rs794728438 | |
pharmgkb | rs794728438 |
gwascentral | rs794728438 |
openSNP | rs794728438 |
23andMe | rs794728438 |
SNPshot | rs794728438 |
SNPdbe | rs794728438 |
MSV3d | rs794728438 |
GWAS Ctlg | rs794728438 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs794728438(-;-) |
Alt | rs794728438(-;-) |
Reference | Rs794728438(ATCGACATGGTGGCCGCCATCCCCTTC;ATCGACATGGTGGCCGCCATCCCCTTC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.150649546_150649572del27 |
CLNSRC | |
CLNACC | RCV000181976.4, |