rs121913642
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs121913642(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23427879 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913642 |
dbSNP (classic) | rs121913642 |
ClinGen | rs121913642 |
ebi | rs121913642 |
HLI | rs121913642 |
Exac | rs121913642 |
Gnomad | rs121913642 |
Varsome | rs121913642 |
LitVar | rs121913642 |
Map | rs121913642 |
PheGenI | rs121913642 |
Biobank | rs121913642 |
1000 genomes | rs121913642 |
hgdp | rs121913642 |
ensembl | rs121913642 |
geneview | rs121913642 |
scholar | rs121913642 |
rs121913642 | |
pharmgkb | rs121913642 |
gwascentral | rs121913642 |
openSNP | rs121913642 |
23andMe | rs121913642 |
SNPshot | rs121913642 |
SNPdbe | rs121913642 |
MSV3d | rs121913642 |
GWAS Ctlg | rs121913642 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs121913642(C;C) |
Alt | rs121913642(C;C) |
Reference | Rs121913642(T;T) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1S Primary dilated cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Dilated cardiomyopathy 1S Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23897088A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015164.27, RCV000211832.1, |