rs111569862
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111569862(C;C) |
Make rs111569862(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156137653 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs111569862 |
dbSNP (classic) | rs111569862 |
ClinGen | rs111569862 |
ebi | rs111569862 |
HLI | rs111569862 |
Exac | rs111569862 |
Gnomad | rs111569862 |
Varsome | rs111569862 |
LitVar | rs111569862 |
Map | rs111569862 |
PheGenI | rs111569862 |
Biobank | rs111569862 |
1000 genomes | rs111569862 |
hgdp | rs111569862 |
ensembl | rs111569862 |
geneview | rs111569862 |
scholar | rs111569862 |
rs111569862 | |
pharmgkb | rs111569862 |
gwascentral | rs111569862 |
openSNP | rs111569862 |
23andMe | rs111569862 |
SNPshot | rs111569862 |
SNPdbe | rs111569862 |
MSV3d | rs111569862 |
GWAS Ctlg | rs111569862 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111569862(A;A) rs111569862(C;C) |
Alt | rs111569862(A;A) rs111569862(C;C) |
Reference | Rs111569862(G;G) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | LMNA |
CLNDBN | Primary dilated cardiomyopathy not provided Limb-girdle muscular dystrophy, type 1B |
Reversed | 0 |
HGVS | NC_000001.10:g.156107444G>A |
CLNSRC | |
CLNACC | RCV000156608.1, RCV000182373.1, RCV000355258.1, |