Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894502
rs104894502
TPM1
0.030 GeneticVariation BEFREE Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin. 22958892

2012
dbSNP: rs104894502
rs104894502
TPM1
0.030 GeneticVariation BEFREE Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. 22794249

2012
dbSNP: rs104894502
rs104894502
TPM1
0.030 GeneticVariation BEFREE We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2. 8205619

1994