rs28933090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.2 | Dilated cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs28933090(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156115172 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs28933090 |
dbSNP (classic) | rs28933090 |
ClinGen | rs28933090 |
ebi | rs28933090 |
HLI | rs28933090 |
Exac | rs28933090 |
Gnomad | rs28933090 |
Varsome | rs28933090 |
LitVar | rs28933090 |
Map | rs28933090 |
PheGenI | rs28933090 |
Biobank | rs28933090 |
1000 genomes | rs28933090 |
hgdp | rs28933090 |
ensembl | rs28933090 |
geneview | rs28933090 |
scholar | rs28933090 |
rs28933090 | |
pharmgkb | rs28933090 |
gwascentral | rs28933090 |
openSNP | rs28933090 |
23andMe | rs28933090 |
SNPshot | rs28933090 |
SNPdbe | rs28933090 |
MSV3d | rs28933090 |
GWAS Ctlg | rs28933090 |
Max Magnitude | 6.2 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28933090(A;A) rs28933090(G;G) |
Alt | rs28933090(A;A) rs28933090(G;G) |
Reference | Rs28933090(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Dilated cardiomyopathy 1A not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1A not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156084963T>A; NC_000001.10:g.156084963T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000225805.1, RCV000015568.25, RCV000057381.1, |