Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. | 16088929 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. | 1532289 | 1992 |
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GTC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. | 27896118 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. | 27896118 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. | 27896118 | 2014 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. | 23852624 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. | 23852624 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. | 23852624 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. | 22723944 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. | 23852624 | 2014 |
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T | 0.800 | GeneticVariation | CLINVAR | A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. | 2970528 | 1988 |
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T | 0.800 | CausalMutation | CLINVAR | ||||||||||
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T | 0.800 | GeneticVariation | CLINVAR | beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. | 8328462 | 1993 |
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T | 0.800 | GeneticVariation | CLINVAR | Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. | 16088929 | 2005 |