| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Three novel mutations in Iranian patients with Tay-Sachs disease. | 24518553 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Three novel mutations in Iranian patients with Tay-Sachs disease. | 24518553 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. | 23035047 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. | 23035047 | 2012 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Rapid identification of HEXA mutations in Tay-Sachs patients. | 20100466 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Rapid identification of HEXA mutations in Tay-Sachs patients. | 20100466 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. | 9150157 | 1997 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. | 9150157 | 1997 |
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|
C | 0.700 | GeneticVariation | CLINVAR | An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease. | 7551830 | 1995 |
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|
C | 0.700 | CausalMutation | CLINVAR | An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease. | 7551830 | 1995 |