rs371488302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371488302(C;T) |
Make rs371488302(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47337792 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs371488302 |
dbSNP (classic) | rs371488302 |
ClinGen | rs371488302 |
ebi | rs371488302 |
HLI | rs371488302 |
Exac | rs371488302 |
Gnomad | rs371488302 |
Varsome | rs371488302 |
LitVar | rs371488302 |
Map | rs371488302 |
PheGenI | rs371488302 |
Biobank | rs371488302 |
1000 genomes | rs371488302 |
hgdp | rs371488302 |
ensembl | rs371488302 |
geneview | rs371488302 |
scholar | rs371488302 |
rs371488302 | |
pharmgkb | rs371488302 |
gwascentral | rs371488302 |
openSNP | rs371488302 |
23andMe | rs371488302 |
SNPshot | rs371488302 |
SNPdbe | rs371488302 |
MSV3d | rs371488302 |
GWAS Ctlg | rs371488302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371488302(T;T) |
Alt | rs371488302(T;T) |
Reference | Rs371488302(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.47359343C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148679.1, RCV000157311.1, RCV000158151.2, |