rs28933091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933091(C;G) |
Make rs28933091(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156134474 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs28933091 |
dbSNP (classic) | rs28933091 |
ClinGen | rs28933091 |
ebi | rs28933091 |
HLI | rs28933091 |
Exac | rs28933091 |
Gnomad | rs28933091 |
Varsome | rs28933091 |
LitVar | rs28933091 |
Map | rs28933091 |
PheGenI | rs28933091 |
Biobank | rs28933091 |
1000 genomes | rs28933091 |
hgdp | rs28933091 |
ensembl | rs28933091 |
geneview | rs28933091 |
scholar | rs28933091 |
rs28933091 | |
pharmgkb | rs28933091 |
gwascentral | rs28933091 |
openSNP | rs28933091 |
23andMe | rs28933091 |
SNPshot | rs28933091 |
SNPdbe | rs28933091 |
MSV3d | rs28933091 |
GWAS Ctlg | rs28933091 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933091(A;A) rs28933091(G;G) |
Alt | rs28933091(A;A) rs28933091(G;G) |
Reference | Rs28933091(C;C) |
Significance | Pathogenic |
Disease | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000001.10:g.156104265C>A; NC_000001.10:g.156104265C>G |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000057424.1, RCV000015572.27, RCV000057425.3, RCV000211789.1, |
[PMID 10580070] Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.