rs61094188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61094188(C;T) |
Make rs61094188(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156136257 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs61094188 |
dbSNP (classic) | rs61094188 |
ClinGen | rs61094188 |
ebi | rs61094188 |
HLI | rs61094188 |
Exac | rs61094188 |
Gnomad | rs61094188 |
Varsome | rs61094188 |
LitVar | rs61094188 |
Map | rs61094188 |
PheGenI | rs61094188 |
Biobank | rs61094188 |
1000 genomes | rs61094188 |
hgdp | rs61094188 |
ensembl | rs61094188 |
geneview | rs61094188 |
scholar | rs61094188 |
rs61094188 | |
pharmgkb | rs61094188 |
gwascentral | rs61094188 |
openSNP | rs61094188 |
23andMe | rs61094188 |
SNPshot | rs61094188 |
SNPdbe | rs61094188 |
MSV3d | rs61094188 |
GWAS Ctlg | rs61094188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61094188(T;T) |
Alt | rs61094188(T;T) |
Reference | Rs61094188(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Ventricular tachycardia Emery-Dreifuss muscular dystrophy |
Variation | info |
Gene | LMNA |
CLNDBN | not specified not provided Ventricular tachycardia, catecholaminergic polymorphic, 1 Emery-Dreifuss muscular dystrophy |
Reversed | 0 |
HGVS | NC_000001.10:g.156106048C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000041313.3, RCV000057258.4, RCV000157295.1, RCV000172002.2, |