rs28933092
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.2 | Dilated cardiomyopathy |
Make rs28933092(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156134497 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs28933092 |
dbSNP (classic) | rs28933092 |
ClinGen | rs28933092 |
ebi | rs28933092 |
HLI | rs28933092 |
Exac | rs28933092 |
Gnomad | rs28933092 |
Varsome | rs28933092 |
LitVar | rs28933092 |
Map | rs28933092 |
PheGenI | rs28933092 |
Biobank | rs28933092 |
1000 genomes | rs28933092 |
hgdp | rs28933092 |
ensembl | rs28933092 |
geneview | rs28933092 |
scholar | rs28933092 |
rs28933092 | |
pharmgkb | rs28933092 |
gwascentral | rs28933092 |
openSNP | rs28933092 |
23andMe | rs28933092 |
SNPshot | rs28933092 |
SNPdbe | rs28933092 |
MSV3d | rs28933092 |
GWAS Ctlg | rs28933092 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs28933092(G;G) rs28933092(T;T) |
Alt | rs28933092(G;G) rs28933092(T;T) |
Reference | Rs28933092(A;A) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1A not provided Primary dilated cardiomyopathy |
Variation | info |
Gene | LMNA |
CLNDBN | Dilated cardiomyopathy 1A not provided Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000001.10:g.156104288A>G; NC_000001.10:g.156104288A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015573.27, RCV000057428.1, RCV000211791.1, RCV000057429.1, |