rs60682848
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs60682848(C;T) |
Make rs60682848(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156134838 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs60682848 |
dbSNP (classic) | rs60682848 |
ClinGen | rs60682848 |
ebi | rs60682848 |
HLI | rs60682848 |
Exac | rs60682848 |
Gnomad | rs60682848 |
Varsome | rs60682848 |
LitVar | rs60682848 |
Map | rs60682848 |
PheGenI | rs60682848 |
Biobank | rs60682848 |
1000 genomes | rs60682848 |
hgdp | rs60682848 |
ensembl | rs60682848 |
geneview | rs60682848 |
scholar | rs60682848 |
rs60682848 | |
pharmgkb | rs60682848 |
gwascentral | rs60682848 |
openSNP | rs60682848 |
23andMe | rs60682848 |
SNPshot | rs60682848 |
SNPdbe | rs60682848 |
MSV3d | rs60682848 |
GWAS Ctlg | rs60682848 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60682848(T;T) |
Alt | rs60682848(T;T) |
Reference | Rs60682848(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1A not provided Limb-girdle muscular dystrophy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | Dilated cardiomyopathy 1A not provided Limb-girdle muscular dystrophy, type 1B Primary dilated cardiomyopathy Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156104629C>T |
CLNSRC | ClinVar Epithelial Biology GeneReviews |
CLNACC | RCV000056001.4, RCV000057442.4, RCV000194831.1, RCV000211792.1, RCV000464494.1, |