rs375675796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375675796(C;T) |
Make rs375675796(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47337564 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs375675796 |
dbSNP (classic) | rs375675796 |
ClinGen | rs375675796 |
ebi | rs375675796 |
HLI | rs375675796 |
Exac | rs375675796 |
Gnomad | rs375675796 |
Varsome | rs375675796 |
LitVar | rs375675796 |
Map | rs375675796 |
PheGenI | rs375675796 |
Biobank | rs375675796 |
1000 genomes | rs375675796 |
hgdp | rs375675796 |
ensembl | rs375675796 |
geneview | rs375675796 |
scholar | rs375675796 |
rs375675796 | |
pharmgkb | rs375675796 |
gwascentral | rs375675796 |
openSNP | rs375675796 |
23andMe | rs375675796 |
SNPshot | rs375675796 |
SNPdbe | rs375675796 |
MSV3d | rs375675796 |
GWAS Ctlg | rs375675796 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375675796(A;A) rs375675796(T;T) |
Alt | rs375675796(A;A) rs375675796(T;T) |
Reference | Rs375675796(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Hypertrophic cardiomyopathy not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Cardiovascular phenotype |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Hypertrophic cardiomyopathy not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000011.9:g.47359115C>A; NC_000011.9:g.47359115C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000158444.3, RCV000458102.1, RCV000035488.5, RCV000148677.1, RCV000201483.1, RCV000250821.1, |