rs202141173
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202141173(C;T) |
Make rs202141173(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424842 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs202141173 |
dbSNP (classic) | rs202141173 |
ClinGen | rs202141173 |
ebi | rs202141173 |
HLI | rs202141173 |
Exac | rs202141173 |
Gnomad | rs202141173 |
Varsome | rs202141173 |
LitVar | rs202141173 |
Map | rs202141173 |
PheGenI | rs202141173 |
Biobank | rs202141173 |
1000 genomes | rs202141173 |
hgdp | rs202141173 |
ensembl | rs202141173 |
geneview | rs202141173 |
scholar | rs202141173 |
rs202141173 | |
pharmgkb | rs202141173 |
gwascentral | rs202141173 |
openSNP | rs202141173 |
23andMe | rs202141173 |
SNPshot | rs202141173 |
SNPdbe | rs202141173 |
MSV3d | rs202141173 |
GWAS Ctlg | rs202141173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202141173(T;T) |
Alt | rs202141173(T;T) |
Reference | Rs202141173(C;C) |
Significance | Pathogenic |
Disease | not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23894051C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000154257.2, RCV000458948.1, |