rs58932704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs58932704(C;T) |
Make rs58932704(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156136413 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs58932704 |
dbSNP (classic) | rs58932704 |
ClinGen | rs58932704 |
ebi | rs58932704 |
HLI | rs58932704 |
Exac | rs58932704 |
Gnomad | rs58932704 |
Varsome | rs58932704 |
LitVar | rs58932704 |
Map | rs58932704 |
PheGenI | rs58932704 |
Biobank | rs58932704 |
1000 genomes | rs58932704 |
hgdp | rs58932704 |
ensembl | rs58932704 |
geneview | rs58932704 |
scholar | rs58932704 |
rs58932704 | |
pharmgkb | rs58932704 |
gwascentral | rs58932704 |
openSNP | rs58932704 |
23andMe | rs58932704 |
SNPshot | rs58932704 |
SNPdbe | rs58932704 |
MSV3d | rs58932704 |
GWAS Ctlg | rs58932704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58932704(T;T) |
Alt | rs58932704(T;T) |
Reference | Rs58932704(C;C) |
Significance | Other |
Disease | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy, type 1B Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156106204C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015565.27, RCV000057273.3, RCV000230383.2, RCV000472112.1, |