| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | 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 | GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. | 22789865 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients. | 7827134 | 1995 |
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|
T | 0.700 | CausalMutation | CLINVAR | Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients. | 7827134 | 1995 |
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|
T | 0.700 | CausalMutation | CLINVAR | Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. | 8490625 | 1993 |
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|
G | 0.700 | CausalMutation | CLINVAR | Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. | 8490625 | 1993 |
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|
G | 0.700 | CausalMutation | CLINVAR | The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. | 1483696 | 1992 |
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|
T | 0.700 | CausalMutation | CLINVAR | The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. | 1483696 | 1992 |
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|
G | 0.700 | CausalMutation | CLINVAR | Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. | 1833974 | 1991 |
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|
T | 0.700 | CausalMutation | CLINVAR | Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. | 1833974 | 1991 |
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|
T | 0.700 | GeneticVariation | CLINVAR |