rs80338938
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338938(A;A) |
Make rs80338938(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156137756 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs80338938 |
dbSNP (classic) | rs80338938 |
ClinGen | rs80338938 |
ebi | rs80338938 |
HLI | rs80338938 |
Exac | rs80338938 |
Gnomad | rs80338938 |
Varsome | rs80338938 |
LitVar | rs80338938 |
Map | rs80338938 |
PheGenI | rs80338938 |
Biobank | rs80338938 |
1000 genomes | rs80338938 |
hgdp | rs80338938 |
ensembl | rs80338938 |
geneview | rs80338938 |
scholar | rs80338938 |
rs80338938 | |
pharmgkb | rs80338938 |
gwascentral | rs80338938 |
openSNP | rs80338938 |
23andMe | rs80338938 |
SNPshot | rs80338938 |
SNPdbe | rs80338938 |
MSV3d | rs80338938 |
GWAS Ctlg | rs80338938 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338938(A;A) rs80338938(T;T) |
Alt | rs80338938(A;A) rs80338938(T;T) |
Reference | Rs80338938(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1A not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Dilated cardiomyopathy 1A not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156107547C>A; NC_000001.10:g.156107547C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015574.25, RCV000057044.1, RCV000057045.1, |
[PMID 10580070] Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.