rs727503252
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503252(A;A) |
Make rs727503252(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424047 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727503252 |
dbSNP (classic) | rs727503252 |
ClinGen | rs727503252 |
ebi | rs727503252 |
HLI | rs727503252 |
Exac | rs727503252 |
Gnomad | rs727503252 |
Varsome | rs727503252 |
LitVar | rs727503252 |
Map | rs727503252 |
PheGenI | rs727503252 |
Biobank | rs727503252 |
1000 genomes | rs727503252 |
hgdp | rs727503252 |
ensembl | rs727503252 |
geneview | rs727503252 |
scholar | rs727503252 |
rs727503252 | |
pharmgkb | rs727503252 |
gwascentral | rs727503252 |
openSNP | rs727503252 |
23andMe | rs727503252 |
SNPshot | rs727503252 |
SNPdbe | rs727503252 |
MSV3d | rs727503252 |
GWAS Ctlg | rs727503252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503252(A;A) |
Alt | rs727503252(A;A) |
Reference | Rs727503252(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23893256C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000151257.1, RCV000158574.2, |