rs786205430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205430(-;-) |
Make rs786205430(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 110911152 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205430 |
dbSNP (classic) | rs786205430 |
ClinGen | rs786205430 |
ebi | rs786205430 |
HLI | rs786205430 |
Exac | rs786205430 |
Gnomad | rs786205430 |
Varsome | rs786205430 |
LitVar | rs786205430 |
Map | rs786205430 |
PheGenI | rs786205430 |
Biobank | rs786205430 |
1000 genomes | rs786205430 |
hgdp | rs786205430 |
ensembl | rs786205430 |
geneview | rs786205430 |
scholar | rs786205430 |
rs786205430 | |
pharmgkb | rs786205430 |
gwascentral | rs786205430 |
openSNP | rs786205430 |
23andMe | rs786205430 |
SNPshot | rs786205430 |
SNPdbe | rs786205430 |
MSV3d | rs786205430 |
GWAS Ctlg | rs786205430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205430(-;-) |
Alt | rs786205430(-;-) |
Reference | Rs786205430(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL2 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.111348956delG |
CLNSRC | |
CLNACC | RCV000171842.1, |