rs1057518938
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518938(C;C) |
Make rs1057518938(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 15724166 |
Gene | MYH11, NDE1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518938 |
dbSNP (classic) | rs1057518938 |
ClinGen | rs1057518938 |
ebi | rs1057518938 |
HLI | rs1057518938 |
Exac | rs1057518938 |
Gnomad | rs1057518938 |
Varsome | rs1057518938 |
LitVar | rs1057518938 |
Map | rs1057518938 |
PheGenI | rs1057518938 |
Biobank | rs1057518938 |
1000 genomes | rs1057518938 |
hgdp | rs1057518938 |
ensembl | rs1057518938 |
geneview | rs1057518938 |
scholar | rs1057518938 |
rs1057518938 | |
pharmgkb | rs1057518938 |
gwascentral | rs1057518938 |
openSNP | rs1057518938 |
23andMe | rs1057518938 |
SNPshot | rs1057518938 |
SNPdbe | rs1057518938 |
MSV3d | rs1057518938 |
GWAS Ctlg | rs1057518938 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518938(C;C) |
Alt | rs1057518938(C;C) |
Reference | Rs1057518938(G;G) |
Significance | Probable-Pathogenic |
Disease | Abnormality of the left ventricle Aortic root dilatation Mitral regurgitation Myopia Tricuspid regurgitation |
Variation | info |
Gene | NDE1 MYH11 |
CLNDBN | Abnormality of the left ventricle Aortic root dilatation Mitral regurgitation Myopia Tricuspid regurgitation |
Reversed | 1 |
HGVS | NC_000016.9:g.15818023C>G |
CLNSRC | |
CLNACC | RCV000414859.1, |