rs1071646
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1071646(A;A) |
Make rs1071646(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 63059641 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs1071646 |
dbSNP (classic) | rs1071646 |
ClinGen | rs1071646 |
ebi | rs1071646 |
HLI | rs1071646 |
Exac | rs1071646 |
Gnomad | rs1071646 |
Varsome | rs1071646 |
LitVar | rs1071646 |
Map | rs1071646 |
PheGenI | rs1071646 |
Biobank | rs1071646 |
1000 genomes | rs1071646 |
hgdp | rs1071646 |
ensembl | rs1071646 |
geneview | rs1071646 |
scholar | rs1071646 |
rs1071646 | |
pharmgkb | rs1071646 |
gwascentral | rs1071646 |
openSNP | rs1071646 |
23andMe | rs1071646 |
SNPshot | rs1071646 |
SNPdbe | rs1071646 |
MSV3d | rs1071646 |
GWAS Ctlg | rs1071646 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 26400351] Significance of sarcomere gene mutation in patients with dilated cardiomyopathy
ClinVar | |
---|---|
Risk | rs1071646(A;A) |
Alt | rs1071646(A;A) |
Reference | Rs1071646(C;C) |
Significance | Probable-non-pathogenic |
Disease | not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | TPM1 |
CLNDBN | not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000015.9:g.63351840C>A |
CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
CLNACC | RCV000024584.3, RCV000036332.4, RCV000248314.1, RCV000280647.1, RCV000373427.1, |