rs587776772
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776772(-;-) |
Make rs587776772(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 178529083 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776772 |
dbSNP (classic) | rs587776772 |
ClinGen | rs587776772 |
ebi | rs587776772 |
HLI | rs587776772 |
Exac | rs587776772 |
Gnomad | rs587776772 |
Varsome | rs587776772 |
LitVar | rs587776772 |
Map | rs587776772 |
PheGenI | rs587776772 |
Biobank | rs587776772 |
1000 genomes | rs587776772 |
hgdp | rs587776772 |
ensembl | rs587776772 |
geneview | rs587776772 |
scholar | rs587776772 |
rs587776772 | |
pharmgkb | rs587776772 |
gwascentral | rs587776772 |
openSNP | rs587776772 |
23andMe | rs587776772 |
SNPshot | rs587776772 |
SNPdbe | rs587776772 |
MSV3d | rs587776772 |
GWAS Ctlg | rs587776772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776772(T;T) rs587776772(-;-) |
Alt | Rs587776772(T;T) rs587776772(-;-) |
Reference | Rs587776772(A;A) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Myopathy, early-onset, with fatal cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179393810delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013496.25, |