rs768134055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
Make rs768134055(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 123708719 |
Gene | LOC105369194, MYLK |
is a | snp |
is | mentioned by |
dbSNP | rs768134055 |
dbSNP (classic) | rs768134055 |
ClinGen | rs768134055 |
ebi | rs768134055 |
HLI | rs768134055 |
Exac | rs768134055 |
Gnomad | rs768134055 |
Varsome | rs768134055 |
LitVar | rs768134055 |
Map | rs768134055 |
PheGenI | rs768134055 |
Biobank | rs768134055 |
1000 genomes | rs768134055 |
hgdp | rs768134055 |
ensembl | rs768134055 |
geneview | rs768134055 |
scholar | rs768134055 |
rs768134055 | |
pharmgkb | rs768134055 |
gwascentral | rs768134055 |
openSNP | rs768134055 |
23andMe | rs768134055 |
SNPshot | rs768134055 |
SNPdbe | rs768134055 |
MSV3d | rs768134055 |
GWAS Ctlg | rs768134055 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs768134055(A;A) |
Alt | rs768134055(A;A) |
Reference | Rs768134055(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MYLK LOC101927028 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.123427566G>A |
CLNSRC | |
CLNACC | RCV000425459.1, |