rs730880140
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730880140(A;G) |
Make rs730880140(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47333297 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880140 |
dbSNP (classic) | rs730880140 |
ClinGen | rs730880140 |
ebi | rs730880140 |
HLI | rs730880140 |
Exac | rs730880140 |
Gnomad | rs730880140 |
Varsome | rs730880140 |
LitVar | rs730880140 |
Map | rs730880140 |
PheGenI | rs730880140 |
Biobank | rs730880140 |
1000 genomes | rs730880140 |
hgdp | rs730880140 |
ensembl | rs730880140 |
geneview | rs730880140 |
scholar | rs730880140 |
rs730880140 | |
pharmgkb | rs730880140 |
gwascentral | rs730880140 |
openSNP | rs730880140 |
23andMe | rs730880140 |
SNPshot | rs730880140 |
SNPdbe | rs730880140 |
MSV3d | rs730880140 |
GWAS Ctlg | rs730880140 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880140(G;G) |
Alt | rs730880140(G;G) |
Reference | Rs730880140(A;A) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354848T>C |
CLNSRC | |
CLNACC | RCV000157317.1, |