rs397516153
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(C;C) | 0 | common in clinvar |
Make rs397516153(C;T) |
Make rs397516153(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23424935 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516153 |
dbSNP (classic) | rs397516153 |
ClinGen | rs397516153 |
ebi | rs397516153 |
HLI | rs397516153 |
Exac | rs397516153 |
Gnomad | rs397516153 |
Varsome | rs397516153 |
LitVar | rs397516153 |
Map | rs397516153 |
PheGenI | rs397516153 |
Biobank | rs397516153 |
1000 genomes | rs397516153 |
hgdp | rs397516153 |
ensembl | rs397516153 |
geneview | rs397516153 |
scholar | rs397516153 |
rs397516153 | |
pharmgkb | rs397516153 |
gwascentral | rs397516153 |
openSNP | rs397516153 |
23andMe | rs397516153 |
SNPshot | rs397516153 |
SNPdbe | rs397516153 |
MSV3d | rs397516153 |
GWAS Ctlg | rs397516153 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516153(A;A) rs397516153(T;T) |
Alt | rs397516153(A;A) rs397516153(T;T) |
Reference | Rs397516153(C;C) |
Significance | Pathogenic |
Disease | Familial restrictive cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial restrictive cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23894144G>A; NC_000014.8:g.23894144G>T |
CLNSRC | HGMD |
CLNACC | RCV000035799.4, RCV000078451.4, RCV000373365.1, RCV000151268.1, |