rs141735183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(C;C) | 0 | common in clinvar |
Make rs141735183(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23420222 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs141735183 |
dbSNP (classic) | rs141735183 |
ClinGen | rs141735183 |
ebi | rs141735183 |
HLI | rs141735183 |
Exac | rs141735183 |
Gnomad | rs141735183 |
Varsome | rs141735183 |
LitVar | rs141735183 |
Map | rs141735183 |
PheGenI | rs141735183 |
Biobank | rs141735183 |
1000 genomes | rs141735183 |
hgdp | rs141735183 |
ensembl | rs141735183 |
geneview | rs141735183 |
scholar | rs141735183 |
rs141735183 | |
pharmgkb | rs141735183 |
gwascentral | rs141735183 |
openSNP | rs141735183 |
23andMe | rs141735183 |
SNPshot | rs141735183 |
SNPdbe | rs141735183 |
MSV3d | rs141735183 |
GWAS Ctlg | rs141735183 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs141735183(A;A) |
Alt | rs141735183(A;A) |
Reference | Rs141735183(C;C) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23889431C>A |
CLNSRC | |
CLNACC | RCV000149894.2, |