rs104894505
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894505(A;A) |
Make rs104894505(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 63044072 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894505 |
dbSNP (classic) | rs104894505 |
ClinGen | rs104894505 |
ebi | rs104894505 |
HLI | rs104894505 |
Exac | rs104894505 |
Gnomad | rs104894505 |
Varsome | rs104894505 |
LitVar | rs104894505 |
Map | rs104894505 |
PheGenI | rs104894505 |
Biobank | rs104894505 |
1000 genomes | rs104894505 |
hgdp | rs104894505 |
ensembl | rs104894505 |
geneview | rs104894505 |
scholar | rs104894505 |
rs104894505 | |
pharmgkb | rs104894505 |
gwascentral | rs104894505 |
openSNP | rs104894505 |
23andMe | rs104894505 |
SNPshot | rs104894505 |
SNPdbe | rs104894505 |
MSV3d | rs104894505 |
GWAS Ctlg | rs104894505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894505(A;A) |
Alt | rs104894505(A;A) |
Reference | Rs104894505(G;G) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1Y not provided |
Variation | info |
Gene | TPM1 |
CLNDBN | Dilated cardiomyopathy 1Y not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.63336271G>A |
CLNSRC | Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013274.22, RCV000159370.3, |
[PMID 11273725] Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.