| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
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 | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
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 | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
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 | ||||||||||
|
|
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 | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. | 23852624 | 2014 |
|||||||
|
|
T | 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 | Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. | 1322637 | 1992 |
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|
|
T | 0.700 | GeneticVariation | CLINVAR | Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. | 1322637 | 1992 |
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|
|
T | 0.700 | GeneticVariation | CLINVAR | Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. | 1837283 | 1991 |
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|
|
T | 0.700 | GeneticVariation | CLINVAR | Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. | 1825014 | 1991 |