rs727504531
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727504531(-;-) |
Make rs727504531(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178573463 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504531 |
dbSNP (classic) | rs727504531 |
ClinGen | rs727504531 |
ebi | rs727504531 |
HLI | rs727504531 |
Exac | rs727504531 |
Gnomad | rs727504531 |
Varsome | rs727504531 |
LitVar | rs727504531 |
Map | rs727504531 |
PheGenI | rs727504531 |
Biobank | rs727504531 |
1000 genomes | rs727504531 |
hgdp | rs727504531 |
ensembl | rs727504531 |
geneview | rs727504531 |
scholar | rs727504531 |
rs727504531 | |
pharmgkb | rs727504531 |
gwascentral | rs727504531 |
openSNP | rs727504531 |
23andMe | rs727504531 |
SNPshot | rs727504531 |
SNPdbe | rs727504531 |
MSV3d | rs727504531 |
GWAS Ctlg | rs727504531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504531(-;-) |
Alt | rs727504531(-;-) |
Reference | Rs727504531(T;T) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy Dilated cardiomyopathy 1G |
Reversed | 1 |
HGVS | NC_000002.11:g.179438190delA |
CLNSRC | |
CLNACC | RCV000155681.2, RCV000461414.1, |