rs56984562
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Dilated cardiomyopathy |
Make rs56984562(C;T) |
Make rs56984562(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156137666 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs56984562 |
dbSNP (classic) | rs56984562 |
ClinGen | rs56984562 |
ebi | rs56984562 |
HLI | rs56984562 |
Exac | rs56984562 |
Gnomad | rs56984562 |
Varsome | rs56984562 |
LitVar | rs56984562 |
Map | rs56984562 |
PheGenI | rs56984562 |
Biobank | rs56984562 |
1000 genomes | rs56984562 |
hgdp | rs56984562 |
ensembl | rs56984562 |
geneview | rs56984562 |
scholar | rs56984562 |
rs56984562 | |
pharmgkb | rs56984562 |
gwascentral | rs56984562 |
openSNP | rs56984562 |
23andMe | rs56984562 |
SNPshot | rs56984562 |
SNPdbe | rs56984562 |
MSV3d | rs56984562 |
GWAS Ctlg | rs56984562 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs56984562(A;A) rs56984562(G;G) rs56984562(T;T) |
Alt | rs56984562(A;A) rs56984562(G;G) rs56984562(T;T) |
Reference | Rs56984562(C;C) |
Significance | Pathogenic |
Disease | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156107457C>A; NC_000001.10:g.156107457C>G; NC_000001.10:g.156107457C>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000057341.1, RCV000022641.22, RCV000057342.1, RCV000041325.5, RCV000057343.4, RCV000211786.1, RCV000242991.1, RCV000462793.1, |