rs121909378
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909378(A;A) |
Make rs121909378(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47332931 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs121909378 |
dbSNP (classic) | rs121909378 |
ClinGen | rs121909378 |
ebi | rs121909378 |
HLI | rs121909378 |
Exac | rs121909378 |
Gnomad | rs121909378 |
Varsome | rs121909378 |
LitVar | rs121909378 |
Map | rs121909378 |
PheGenI | rs121909378 |
Biobank | rs121909378 |
1000 genomes | rs121909378 |
hgdp | rs121909378 |
ensembl | rs121909378 |
geneview | rs121909378 |
scholar | rs121909378 |
rs121909378 | |
pharmgkb | rs121909378 |
gwascentral | rs121909378 |
openSNP | rs121909378 |
23andMe | rs121909378 |
SNPshot | rs121909378 |
SNPdbe | rs121909378 |
MSV3d | rs121909378 |
GWAS Ctlg | rs121909378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909378(A;A) rs121909378(T;T) |
Alt | rs121909378(A;A) rs121909378(T;T) |
Reference | Rs121909378(G;G) |
Significance | Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 4 |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 4 |
Reversed | 1 |
HGVS | NC_000011.9:g.47354482C>A; NC_000011.9:g.47354482C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000168815.2, RCV000009135.4, RCV000151069.3, |