rs1060499673
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs1060499673(-;-) |
Make rs1060499673(-;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 47333199 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499673 |
dbSNP (classic) | rs1060499673 |
ClinGen | rs1060499673 |
ebi | rs1060499673 |
HLI | rs1060499673 |
Exac | rs1060499673 |
Gnomad | rs1060499673 |
Varsome | rs1060499673 |
LitVar | rs1060499673 |
Map | rs1060499673 |
PheGenI | rs1060499673 |
Biobank | rs1060499673 |
1000 genomes | rs1060499673 |
hgdp | rs1060499673 |
ensembl | rs1060499673 |
geneview | rs1060499673 |
scholar | rs1060499673 |
rs1060499673 | |
pharmgkb | rs1060499673 |
gwascentral | rs1060499673 |
openSNP | rs1060499673 |
23andMe | rs1060499673 |
SNPshot | rs1060499673 |
SNPdbe | rs1060499673 |
MSV3d | rs1060499673 |
GWAS Ctlg | rs1060499673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499673(-;-) |
Alt | rs1060499673(-;-) |
Reference | Rs1060499673(GA;GA) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 4 |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 4 |
Reversed | 1 |
HGVS | NC_000011.9:g.47354750_47354751delTC |
CLNSRC | |
CLNACC | RCV000449536.1, |