rs192057022
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs192057022(C;T) |
Make rs192057022(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 110913139 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs192057022 |
dbSNP (classic) | rs192057022 |
ClinGen | rs192057022 |
ebi | rs192057022 |
HLI | rs192057022 |
Exac | rs192057022 |
Gnomad | rs192057022 |
Varsome | rs192057022 |
LitVar | rs192057022 |
Map | rs192057022 |
PheGenI | rs192057022 |
Biobank | rs192057022 |
1000 genomes | rs192057022 |
hgdp | rs192057022 |
ensembl | rs192057022 |
geneview | rs192057022 |
scholar | rs192057022 |
rs192057022 | |
pharmgkb | rs192057022 |
gwascentral | rs192057022 |
openSNP | rs192057022 |
23andMe | rs192057022 |
SNPshot | rs192057022 |
SNPdbe | rs192057022 |
MSV3d | rs192057022 |
GWAS Ctlg | rs192057022 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs192057022(T;T) |
Alt | rs192057022(T;T) |
Reference | Rs192057022(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10 |
Variation | info |
Gene | MYL2 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.111350943C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030324.1, RCV000036398.2, RCV000228967.1, |