rs267607539
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Dilated cardiomyopathy |
(C;G) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
(G;G) | 0 | common in clinvar |
Make rs267607539(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156137237 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607539 |
dbSNP (classic) | rs267607539 |
ClinGen | rs267607539 |
ebi | rs267607539 |
HLI | rs267607539 |
Exac | rs267607539 |
Gnomad | rs267607539 |
Varsome | rs267607539 |
LitVar | rs267607539 |
Map | rs267607539 |
PheGenI | rs267607539 |
Biobank | rs267607539 |
1000 genomes | rs267607539 |
hgdp | rs267607539 |
ensembl | rs267607539 |
geneview | rs267607539 |
scholar | rs267607539 |
rs267607539 | |
pharmgkb | rs267607539 |
gwascentral | rs267607539 |
openSNP | rs267607539 |
23andMe | rs267607539 |
SNPshot | rs267607539 |
SNPdbe | rs267607539 |
MSV3d | rs267607539 |
GWAS Ctlg | rs267607539 |
Max Magnitude | 6.4 |
ClinVar | |
---|---|
Risk | rs267607539(C;C) |
Alt | rs267607539(C;C) |
Reference | Rs267607539(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Limb-girdle muscular dystrophy, type 1B not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156107028G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015589.26, RCV000057336.1, |