Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555397179
rs1555397179
ATXN3
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 0.700 CausalMutation CLINVAR

dbSNP: rs193922928
rs193922928
ATXN3
CTGCTGCTGCTGCTGCTGCTGCTG 0.700 CausalMutation CLINVAR

dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). 28813711

2017
dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. 16630162

2006
dbSNP: rs13420827
rs13420827
DNMT3A
0.010 GeneticVariation BEFREE We found also that rs13420827 in DNMT3A and rs7354779 in DNMT3L contribute to AO of MJD (p = 0.019 and p = 0.008, respectively). 30554804

2019
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
0.010 GeneticVariation BEFREE We found also that rs13420827 in DNMT3A and rs7354779 in DNMT3L contribute to AO of MJD (p = 0.019 and p = 0.008, respectively). 30554804

2019
dbSNP: rs56268847
rs56268847
ATXN3
0.010 GeneticVariation BEFREE We found the "Joseph-derived" lineage (Joseph lineage with a G variant in rs56268847) to be very common among Chinese MJD patients. 30842792

2018
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900

2010
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900

2010
dbSNP: rs141672872
rs141672872
ATXN3
0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900

2010
dbSNP: rs762622537
rs762622537
ATXN3
0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900

2010
dbSNP: rs766001707
rs766001707
ATXN3
0.010 GeneticVariation BEFREE Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. 16630162

2006
dbSNP: rs1356872624
rs1356872624
ATXN3
0.010 GeneticVariation BEFREE In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased the expression of mutant ataxin-3, Q79C, by 96.0%, whereas there was minimal reduction on that of the wild type, Q22G (5.9%). 15236410

2004