rs797045725
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AGCGAGACCTCGGCGAGGAGCTGGAGGCCCTAAAGACAGAGCTGGAAGA) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(AGCGAGACCTCGGCGAGGAGCTGGAGGCCCTAAAGACAGAGCTGGAAGA;AGCGAGACCTCGGCGAGGAGCTGGAGGCCCTAAAGACAGAGCTGGAAGA) | 0 | common in clinvar |
Make rs797045725(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 15735402 |
Gene | MYH11 |
is a | snp |
is | mentioned by |
dbSNP | rs797045725 |
dbSNP (classic) | rs797045725 |
ClinGen | rs797045725 |
ebi | rs797045725 |
HLI | rs797045725 |
Exac | rs797045725 |
Gnomad | rs797045725 |
Varsome | rs797045725 |
LitVar | rs797045725 |
Map | rs797045725 |
PheGenI | rs797045725 |
Biobank | rs797045725 |
1000 genomes | rs797045725 |
hgdp | rs797045725 |
ensembl | rs797045725 |
geneview | rs797045725 |
scholar | rs797045725 |
rs797045725 | |
pharmgkb | rs797045725 |
gwascentral | rs797045725 |
openSNP | rs797045725 |
23andMe | rs797045725 |
SNPshot | rs797045725 |
SNPdbe | rs797045725 |
MSV3d | rs797045725 |
GWAS Ctlg | rs797045725 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs797045725(-;-) |
Alt | rs797045725(-;-) |
Reference | Rs797045725(AGCGAGACCTCGGCGAGGAGCTGGAGGCCCTAAAGACAGAGCTGGAAGA;AGCGAGACCTCGGCGAGGAGCTGGAGGCCCTAAAGACAGAGCTGGAAGA) |
Significance | Pathogenic |
Disease | Aortic aneurysm |
Variation | info |
Gene | MYH11 |
CLNDBN | Aortic aneurysm, familial thoracic 4 |
Reversed | 1 |
HGVS | NC_000016.9:g.15829259_15829307del49 |
CLNSRC | |
CLNACC | RCV000194899.1, |