rs143978652
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143978652(A;A) |
Make rs143978652(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23393437 |
Gene | MYH6 |
is a | snp |
is | mentioned by |
dbSNP | rs143978652 |
dbSNP (classic) | rs143978652 |
ClinGen | rs143978652 |
ebi | rs143978652 |
HLI | rs143978652 |
Exac | rs143978652 |
Gnomad | rs143978652 |
Varsome | rs143978652 |
LitVar | rs143978652 |
Map | rs143978652 |
PheGenI | rs143978652 |
Biobank | rs143978652 |
1000 genomes | rs143978652 |
hgdp | rs143978652 |
ensembl | rs143978652 |
geneview | rs143978652 |
scholar | rs143978652 |
rs143978652 | |
pharmgkb | rs143978652 |
gwascentral | rs143978652 |
openSNP | rs143978652 |
23andMe | rs143978652 |
SNPshot | rs143978652 |
SNPdbe | rs143978652 |
MSV3d | rs143978652 |
GWAS Ctlg | rs143978652 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143978652(A;A) |
Alt | rs143978652(A;A) |
Reference | Rs143978652(C;C) |
Significance | Other |
Disease | Dilated cardiomyopathy 1EE not specified Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death Cardiovascular phenotype |
Variation | info |
Gene | MYH6 |
CLNDBN | Dilated cardiomyopathy 1EE not specified Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000014.8:g.23862646C>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015214.25, RCV000037468.6, RCV000172563.1, RCV000190123.1, RCV000201499.1, RCV000244450.1, |