rs730880946
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730880946(A;G) |
Make rs730880946(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 110915781 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880946 |
dbSNP (classic) | rs730880946 |
ClinGen | rs730880946 |
ebi | rs730880946 |
HLI | rs730880946 |
Exac | rs730880946 |
Gnomad | rs730880946 |
Varsome | rs730880946 |
LitVar | rs730880946 |
Map | rs730880946 |
PheGenI | rs730880946 |
Biobank | rs730880946 |
1000 genomes | rs730880946 |
hgdp | rs730880946 |
ensembl | rs730880946 |
geneview | rs730880946 |
scholar | rs730880946 |
rs730880946 | |
pharmgkb | rs730880946 |
gwascentral | rs730880946 |
openSNP | rs730880946 |
23andMe | rs730880946 |
SNPshot | rs730880946 |
SNPdbe | rs730880946 |
MSV3d | rs730880946 |
GWAS Ctlg | rs730880946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880946(G;G) |
Alt | rs730880946(G;G) |
Reference | Rs730880946(A;A) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYL2 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.111353585T>C |
CLNSRC | |
CLNACC | RCV000158917.1, |