rs373946195
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373946195(A;G) |
Make rs373946195(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47350058 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs373946195 |
dbSNP (classic) | rs373946195 |
ClinGen | rs373946195 |
ebi | rs373946195 |
HLI | rs373946195 |
Exac | rs373946195 |
Gnomad | rs373946195 |
Varsome | rs373946195 |
LitVar | rs373946195 |
Map | rs373946195 |
PheGenI | rs373946195 |
Biobank | rs373946195 |
1000 genomes | rs373946195 |
hgdp | rs373946195 |
ensembl | rs373946195 |
geneview | rs373946195 |
scholar | rs373946195 |
rs373946195 | |
pharmgkb | rs373946195 |
gwascentral | rs373946195 |
openSNP | rs373946195 |
23andMe | rs373946195 |
SNPshot | rs373946195 |
SNPdbe | rs373946195 |
MSV3d | rs373946195 |
GWAS Ctlg | rs373946195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373946195(G;G) |
Alt | rs373946195(G;G) |
Reference | Rs373946195(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47371609A>G |
CLNSRC | |
CLNACC | RCV000035631.3, RCV000148686.1, |