rs727504336
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs727504336(-;-) |
Make rs727504336(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23428600 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727504336 |
dbSNP (classic) | rs727504336 |
ClinGen | rs727504336 |
ebi | rs727504336 |
HLI | rs727504336 |
Exac | rs727504336 |
Gnomad | rs727504336 |
Varsome | rs727504336 |
LitVar | rs727504336 |
Map | rs727504336 |
PheGenI | rs727504336 |
Biobank | rs727504336 |
1000 genomes | rs727504336 |
hgdp | rs727504336 |
ensembl | rs727504336 |
geneview | rs727504336 |
scholar | rs727504336 |
rs727504336 | |
pharmgkb | rs727504336 |
gwascentral | rs727504336 |
openSNP | rs727504336 |
23andMe | rs727504336 |
SNPshot | rs727504336 |
SNPdbe | rs727504336 |
MSV3d | rs727504336 |
GWAS Ctlg | rs727504336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504336(-;-) |
Alt | rs727504336(-;-) |
Reference | Rs727504336(AT;AT) |
Significance | Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23897809_23897810delAT |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000154450.1, RCV000168853.2, |