rs797045011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045011(C;C) |
Make rs797045011(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156135314 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs797045011 |
dbSNP (classic) | rs797045011 |
ClinGen | rs797045011 |
ebi | rs797045011 |
HLI | rs797045011 |
Exac | rs797045011 |
Gnomad | rs797045011 |
Varsome | rs797045011 |
LitVar | rs797045011 |
Map | rs797045011 |
PheGenI | rs797045011 |
Biobank | rs797045011 |
1000 genomes | rs797045011 |
hgdp | rs797045011 |
ensembl | rs797045011 |
geneview | rs797045011 |
scholar | rs797045011 |
rs797045011 | |
pharmgkb | rs797045011 |
gwascentral | rs797045011 |
openSNP | rs797045011 |
23andMe | rs797045011 |
SNPshot | rs797045011 |
SNPdbe | rs797045011 |
MSV3d | rs797045011 |
GWAS Ctlg | rs797045011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045011(C;C) |
Alt | rs797045011(C;C) |
Reference | Rs797045011(T;T) |
Significance | Pathogenic |
Disease | Benign scapuloperoneal muscular dystrophy with cardiomyopathy |
Variation | info |
Gene | LMNA |
CLNDBN | Benign scapuloperoneal muscular dystrophy with cardiomyopathy |
Reversed | 0 |
HGVS | NC_000001.10:g.156105105T>C |
CLNSRC | |
CLNACC | RCV000190509.1, |