rs59026483
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Dilated cardiomyopathy |
Make rs59026483(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156134457 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs59026483 |
dbSNP (classic) | rs59026483 |
ClinGen | rs59026483 |
ebi | rs59026483 |
HLI | rs59026483 |
Exac | rs59026483 |
Gnomad | rs59026483 |
Varsome | rs59026483 |
LitVar | rs59026483 |
Map | rs59026483 |
PheGenI | rs59026483 |
Biobank | rs59026483 |
1000 genomes | rs59026483 |
hgdp | rs59026483 |
ensembl | rs59026483 |
geneview | rs59026483 |
scholar | rs59026483 |
rs59026483 | |
pharmgkb | rs59026483 |
gwascentral | rs59026483 |
openSNP | rs59026483 |
23andMe | rs59026483 |
SNPshot | rs59026483 |
SNPdbe | rs59026483 |
MSV3d | rs59026483 |
GWAS Ctlg | rs59026483 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs59026483(T;T) |
Alt | rs59026483(T;T) |
Reference | Rs59026483(C;C) |
Significance | Pathogenic |
Disease | not provided Dilated cardiomyopathy 1A Dilated cardiomyopathy 1S |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Dilated cardiomyopathy 1A Dilated cardiomyopathy 1S |
Reversed | 0 |
HGVS | NC_000001.10:g.156104248C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057419.4, RCV000177232.1, RCV000491585.1, |