rs58917027
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.2 | Dilated cardiomyopathy |
Make rs58917027(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156130708 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs58917027 |
dbSNP (classic) | rs58917027 |
ClinGen | rs58917027 |
ebi | rs58917027 |
HLI | rs58917027 |
Exac | rs58917027 |
Gnomad | rs58917027 |
Varsome | rs58917027 |
LitVar | rs58917027 |
Map | rs58917027 |
PheGenI | rs58917027 |
Biobank | rs58917027 |
1000 genomes | rs58917027 |
hgdp | rs58917027 |
ensembl | rs58917027 |
geneview | rs58917027 |
scholar | rs58917027 |
rs58917027 | |
pharmgkb | rs58917027 |
gwascentral | rs58917027 |
openSNP | rs58917027 |
23andMe | rs58917027 |
SNPshot | rs58917027 |
SNPdbe | rs58917027 |
MSV3d | rs58917027 |
GWAS Ctlg | rs58917027 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs58917027(C;C) rs58917027(G;G) |
Alt | rs58917027(C;C) rs58917027(G;G) |
Reference | Rs58917027(A;A) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156100499A>C; NC_000001.10:g.156100499A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000041350.2, RCV000057407.1, RCV000208276.1, |