rs121913650
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913650(C;T) |
Make rs121913650(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23415652 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913650 |
dbSNP (classic) | rs121913650 |
ClinGen | rs121913650 |
ebi | rs121913650 |
HLI | rs121913650 |
Exac | rs121913650 |
Gnomad | rs121913650 |
Varsome | rs121913650 |
LitVar | rs121913650 |
Map | rs121913650 |
PheGenI | rs121913650 |
Biobank | rs121913650 |
1000 genomes | rs121913650 |
hgdp | rs121913650 |
ensembl | rs121913650 |
geneview | rs121913650 |
scholar | rs121913650 |
rs121913650 | |
pharmgkb | rs121913650 |
gwascentral | rs121913650 |
openSNP | rs121913650 |
23andMe | rs121913650 |
SNPshot | rs121913650 |
SNPdbe | rs121913650 |
MSV3d | rs121913650 |
GWAS Ctlg | rs121913650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913650(T;T) |
Alt | rs121913650(T;T) |
Reference | Rs121913650(C;C) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23884861G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015175.28, RCV000257929.2, RCV000480992.1, |