rs543860009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs543860009(G;T) |
Make rs543860009(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178589003 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs543860009 |
dbSNP (classic) | rs543860009 |
ClinGen | rs543860009 |
ebi | rs543860009 |
HLI | rs543860009 |
Exac | rs543860009 |
Gnomad | rs543860009 |
Varsome | rs543860009 |
LitVar | rs543860009 |
Map | rs543860009 |
PheGenI | rs543860009 |
Biobank | rs543860009 |
1000 genomes | rs543860009 |
hgdp | rs543860009 |
ensembl | rs543860009 |
geneview | rs543860009 |
scholar | rs543860009 |
rs543860009 | |
pharmgkb | rs543860009 |
gwascentral | rs543860009 |
openSNP | rs543860009 |
23andMe | rs543860009 |
SNPshot | rs543860009 |
SNPdbe | rs543860009 |
MSV3d | rs543860009 |
GWAS Ctlg | rs543860009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs543860009(A;A) rs543860009(T;T) |
Alt | rs543860009(A;A) rs543860009(T;T) |
Reference | Rs543860009(G;G) |
Significance | Probable-Pathogenic |
Disease | Congenital myopathy not provided |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Congenital myopathy not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.179453730G>A |
CLNSRC | |
CLNACC | RCV000230182.1, RCV000424753.1, |