rs150936840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150936840(C;T) |
Make rs150936840(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 123707995 |
Gene | LOC105369194, MYLK |
is a | snp |
is | mentioned by |
dbSNP | rs150936840 |
dbSNP (classic) | rs150936840 |
ClinGen | rs150936840 |
ebi | rs150936840 |
HLI | rs150936840 |
Exac | rs150936840 |
Gnomad | rs150936840 |
Varsome | rs150936840 |
LitVar | rs150936840 |
Map | rs150936840 |
PheGenI | rs150936840 |
Biobank | rs150936840 |
1000 genomes | rs150936840 |
hgdp | rs150936840 |
ensembl | rs150936840 |
geneview | rs150936840 |
scholar | rs150936840 |
rs150936840 | |
pharmgkb | rs150936840 |
gwascentral | rs150936840 |
openSNP | rs150936840 |
23andMe | rs150936840 |
SNPshot | rs150936840 |
SNPdbe | rs150936840 |
MSV3d | rs150936840 |
GWAS Ctlg | rs150936840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150936840(A;A) rs150936840(T;T) |
Alt | rs150936840(A;A) rs150936840(T;T) |
Reference | Rs150936840(C;C) |
Significance | Probable-Pathogenic |
Disease | Aortic aneurysm Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | MYLK LOC101927028 |
CLNDBN | Aortic aneurysm, familial thoracic 7 Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000003.11:g.123426842C>A |
CLNSRC | |
CLNACC | RCV000198643.1, RCV000294908.1, |