rs45478699
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs45478699(G;T) |
Make rs45478699(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23421008 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs45478699 |
dbSNP (classic) | rs45478699 |
ClinGen | rs45478699 |
ebi | rs45478699 |
HLI | rs45478699 |
Exac | rs45478699 |
Gnomad | rs45478699 |
Varsome | rs45478699 |
LitVar | rs45478699 |
Map | rs45478699 |
PheGenI | rs45478699 |
Biobank | rs45478699 |
1000 genomes | rs45478699 |
hgdp | rs45478699 |
ensembl | rs45478699 |
geneview | rs45478699 |
scholar | rs45478699 |
rs45478699 | |
pharmgkb | rs45478699 |
gwascentral | rs45478699 |
openSNP | rs45478699 |
23andMe | rs45478699 |
SNPshot | rs45478699 |
SNPdbe | rs45478699 |
MSV3d | rs45478699 |
GWAS Ctlg | rs45478699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45478699(T;T) |
Alt | rs45478699(T;T) |
Reference | Rs45478699(G;G) |
Significance | Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S |
Reversed | 1 |
HGVS | NC_000014.8:g.23890217C>A |
CLNSRC | |
CLNACC | RCV000035846.4, RCV000201875.1, RCV000491282.1, |