rs121913635
From SNPedia
Merged into | rs121913624 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913635(G;T) |
Make rs121913635(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23429278 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913635 |
dbSNP (classic) | rs121913635 |
ClinGen | rs121913635 |
ebi | rs121913635 |
HLI | rs121913635 |
Exac | rs121913635 |
Gnomad | rs121913635 |
Varsome | rs121913635 |
LitVar | rs121913635 |
Map | rs121913635 |
PheGenI | rs121913635 |
Biobank | rs121913635 |
1000 genomes | rs121913635 |
hgdp | rs121913635 |
ensembl | rs121913635 |
geneview | rs121913635 |
scholar | rs121913635 |
rs121913635 | |
pharmgkb | rs121913635 |
gwascentral | rs121913635 |
openSNP | rs121913635 |
23andMe | rs121913635 |
SNPshot | rs121913635 |
SNPdbe | rs121913635 |
MSV3d | rs121913635 |
GWAS Ctlg | rs121913635 |
Status | Merged into rs121913624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913635(T;T) |
Alt | rs121913635(T;T) |
Reference | Rs121913635(G;G) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23898487C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000035414.1, |