rs727504272
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504272(C;T) |
Make rs727504272(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23425997 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727504272 |
dbSNP (classic) | rs727504272 |
ClinGen | rs727504272 |
ebi | rs727504272 |
HLI | rs727504272 |
Exac | rs727504272 |
Gnomad | rs727504272 |
Varsome | rs727504272 |
LitVar | rs727504272 |
Map | rs727504272 |
PheGenI | rs727504272 |
Biobank | rs727504272 |
1000 genomes | rs727504272 |
hgdp | rs727504272 |
ensembl | rs727504272 |
geneview | rs727504272 |
scholar | rs727504272 |
rs727504272 | |
pharmgkb | rs727504272 |
gwascentral | rs727504272 |
openSNP | rs727504272 |
23andMe | rs727504272 |
SNPshot | rs727504272 |
SNPdbe | rs727504272 |
MSV3d | rs727504272 |
GWAS Ctlg | rs727504272 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504272(A;A) rs727504272(T;T) |
Alt | rs727504272(A;A) rs727504272(T;T) |
Reference | Rs727504272(C;C) |
Significance | Pathogenic |
Disease | not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23895206G>A; NC_000014.8:g.23895206G>T |
CLNSRC | |
CLNACC | RCV000154269.2, RCV000154344.2, RCV000469589.1, |