rs397516156
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs397516156(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424902 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516156 |
dbSNP (classic) | rs397516156 |
ClinGen | rs397516156 |
ebi | rs397516156 |
HLI | rs397516156 |
Exac | rs397516156 |
Gnomad | rs397516156 |
Varsome | rs397516156 |
LitVar | rs397516156 |
Map | rs397516156 |
PheGenI | rs397516156 |
Biobank | rs397516156 |
1000 genomes | rs397516156 |
hgdp | rs397516156 |
ensembl | rs397516156 |
geneview | rs397516156 |
scholar | rs397516156 |
rs397516156 | |
pharmgkb | rs397516156 |
gwascentral | rs397516156 |
openSNP | rs397516156 |
23andMe | rs397516156 |
SNPshot | rs397516156 |
SNPdbe | rs397516156 |
MSV3d | rs397516156 |
GWAS Ctlg | rs397516156 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516156(C;C) |
Alt | rs397516156(C;C) |
Reference | Rs397516156(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23894111A>G |
CLNSRC | |
CLNACC | RCV000035803.3, |