rs372381770
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372381770(A;A) |
Make rs372381770(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23414101 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs372381770 |
dbSNP (classic) | rs372381770 |
ClinGen | rs372381770 |
ebi | rs372381770 |
HLI | rs372381770 |
Exac | rs372381770 |
Gnomad | rs372381770 |
Varsome | rs372381770 |
LitVar | rs372381770 |
Map | rs372381770 |
PheGenI | rs372381770 |
Biobank | rs372381770 |
1000 genomes | rs372381770 |
hgdp | rs372381770 |
ensembl | rs372381770 |
geneview | rs372381770 |
scholar | rs372381770 |
rs372381770 | |
pharmgkb | rs372381770 |
gwascentral | rs372381770 |
openSNP | rs372381770 |
23andMe | rs372381770 |
SNPshot | rs372381770 |
SNPdbe | rs372381770 |
MSV3d | rs372381770 |
GWAS Ctlg | rs372381770 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372381770(A;A) |
Alt | rs372381770(A;A) |
Reference | Rs372381770(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified not provided Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23883310G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148695.1, RCV000154324.2, RCV000158710.2, RCV000457760.1, |