rs397517904
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517904(C;C) |
Make rs397517904(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156130774 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs397517904 |
dbSNP (classic) | rs397517904 |
ClinGen | rs397517904 |
ebi | rs397517904 |
HLI | rs397517904 |
Exac | rs397517904 |
Gnomad | rs397517904 |
Varsome | rs397517904 |
LitVar | rs397517904 |
Map | rs397517904 |
PheGenI | rs397517904 |
Biobank | rs397517904 |
1000 genomes | rs397517904 |
hgdp | rs397517904 |
ensembl | rs397517904 |
geneview | rs397517904 |
scholar | rs397517904 |
rs397517904 | |
pharmgkb | rs397517904 |
gwascentral | rs397517904 |
openSNP | rs397517904 |
23andMe | rs397517904 |
SNPshot | rs397517904 |
SNPdbe | rs397517904 |
MSV3d | rs397517904 |
GWAS Ctlg | rs397517904 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517904(A;A) rs397517904(C;C) rs397517904(T;T) |
Alt | rs397517904(A;A) rs397517904(C;C) rs397517904(T;T) |
Reference | Rs397517904(G;G) |
Significance | Pathogenic |
Disease | not provided Primary dilated cardiomyopathy |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000001.10:g.156100565G>A; NC_000001.10:g.156100565G>C |
CLNSRC | ClinVar |
CLNACC | RCV000235237.1, RCV000041353.2, |