rs112188483
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs112188483(C;G) |
Make rs112188483(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178528273 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs112188483 |
dbSNP (classic) | rs112188483 |
ClinGen | rs112188483 |
ebi | rs112188483 |
HLI | rs112188483 |
Exac | rs112188483 |
Gnomad | rs112188483 |
Varsome | rs112188483 |
LitVar | rs112188483 |
Map | rs112188483 |
PheGenI | rs112188483 |
Biobank | rs112188483 |
1000 genomes | rs112188483 |
hgdp | rs112188483 |
ensembl | rs112188483 |
geneview | rs112188483 |
scholar | rs112188483 |
rs112188483 | |
pharmgkb | rs112188483 |
gwascentral | rs112188483 |
openSNP | rs112188483 |
23andMe | rs112188483 |
SNPshot | rs112188483 |
SNPdbe | rs112188483 |
MSV3d | rs112188483 |
GWAS Ctlg | rs112188483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112188483(G;G) rs112188483(T;T) |
Alt | rs112188483(G;G) rs112188483(T;T) |
Reference | Rs112188483(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not specified Primary dilated cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.179393000C>T |
CLNSRC | |
CLNACC | RCV000177585.2, RCV000209587.1, RCV000413060.1, |