rs1060502531
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCATA;GCATA) | 0 | common in clinvar |
Make rs1060502531(-;-) |
Make rs1060502531(-;GCATA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 123647350 |
Gene | MYLK |
is a | snp |
is | mentioned by |
dbSNP | rs1060502531 |
dbSNP (classic) | rs1060502531 |
ClinGen | rs1060502531 |
ebi | rs1060502531 |
HLI | rs1060502531 |
Exac | rs1060502531 |
Gnomad | rs1060502531 |
Varsome | rs1060502531 |
LitVar | rs1060502531 |
Map | rs1060502531 |
PheGenI | rs1060502531 |
Biobank | rs1060502531 |
1000 genomes | rs1060502531 |
hgdp | rs1060502531 |
ensembl | rs1060502531 |
geneview | rs1060502531 |
scholar | rs1060502531 |
rs1060502531 | |
pharmgkb | rs1060502531 |
gwascentral | rs1060502531 |
openSNP | rs1060502531 |
23andMe | rs1060502531 |
SNPshot | rs1060502531 |
SNPdbe | rs1060502531 |
MSV3d | rs1060502531 |
GWAS Ctlg | rs1060502531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502531(-;-) |
Alt | rs1060502531(-;-) |
Reference | Rs1060502531(GCATA;GCATA) |
Significance | Probable-Pathogenic |
Disease | Aortic aneurysm |
Variation | info |
Gene | MYLK |
CLNDBN | Aortic aneurysm, familial thoracic 7 |
Reversed | 1 |
HGVS | NC_000003.11:g.123366197_123366201delTATGC |
CLNSRC | |
CLNACC | RCV000462848.1, |