rs397516113
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397516113(A;G) |
Make rs397516113(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23427876 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516113 |
dbSNP (classic) | rs397516113 |
ClinGen | rs397516113 |
ebi | rs397516113 |
HLI | rs397516113 |
Exac | rs397516113 |
Gnomad | rs397516113 |
Varsome | rs397516113 |
LitVar | rs397516113 |
Map | rs397516113 |
PheGenI | rs397516113 |
Biobank | rs397516113 |
1000 genomes | rs397516113 |
hgdp | rs397516113 |
ensembl | rs397516113 |
geneview | rs397516113 |
scholar | rs397516113 |
rs397516113 | |
pharmgkb | rs397516113 |
gwascentral | rs397516113 |
openSNP | rs397516113 |
23andMe | rs397516113 |
SNPshot | rs397516113 |
SNPdbe | rs397516113 |
MSV3d | rs397516113 |
GWAS Ctlg | rs397516113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516113(G;G) |
Alt | rs397516113(G;G) |
Reference | Rs397516113(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23897085T>C |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000035732.3, RCV000168857.2, |