rs193922381
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922381(A;A) |
Make rs193922381(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 47335037 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs193922381 |
dbSNP (classic) | rs193922381 |
ClinGen | rs193922381 |
ebi | rs193922381 |
HLI | rs193922381 |
Exac | rs193922381 |
Gnomad | rs193922381 |
Varsome | rs193922381 |
LitVar | rs193922381 |
Map | rs193922381 |
PheGenI | rs193922381 |
Biobank | rs193922381 |
1000 genomes | rs193922381 |
hgdp | rs193922381 |
ensembl | rs193922381 |
geneview | rs193922381 |
scholar | rs193922381 |
rs193922381 | |
pharmgkb | rs193922381 |
gwascentral | rs193922381 |
openSNP | rs193922381 |
23andMe | rs193922381 |
SNPshot | rs193922381 |
SNPdbe | rs193922381 |
MSV3d | rs193922381 |
GWAS Ctlg | rs193922381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922381(A;A) rs193922381(T;T) |
Alt | rs193922381(A;A) rs193922381(T;T) |
Reference | Rs193922381(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified not provided Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47356588C>A; NC_000011.9:g.47356588C>T |
CLNSRC | |
CLNACC | RCV000035539.2, RCV000413682.1, RCV000030286.1, |