rs59684335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs59684335(-;-) |
Make rs59684335(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156135284 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs59684335 |
dbSNP (classic) | rs59684335 |
ClinGen | rs59684335 |
ebi | rs59684335 |
HLI | rs59684335 |
Exac | rs59684335 |
Gnomad | rs59684335 |
Varsome | rs59684335 |
LitVar | rs59684335 |
Map | rs59684335 |
PheGenI | rs59684335 |
Biobank | rs59684335 |
1000 genomes | rs59684335 |
hgdp | rs59684335 |
ensembl | rs59684335 |
geneview | rs59684335 |
scholar | rs59684335 |
rs59684335 | |
pharmgkb | rs59684335 |
gwascentral | rs59684335 |
openSNP | rs59684335 |
23andMe | rs59684335 |
SNPshot | rs59684335 |
SNPdbe | rs59684335 |
MSV3d | rs59684335 |
GWAS Ctlg | rs59684335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59684335(-;-) |
Alt | rs59684335(-;-) |
Reference | Rs59684335(CT;CT) |
Significance | Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease Dilated cardiomyopathy 1S |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1S |
Reversed | 0 |
HGVS | NC_000001.10:g.156105075_156105076delCT |
CLNSRC | |
CLNACC | RCV000057484.3, RCV000463447.1, RCV000490978.1, |