Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107

2010
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR A variable neurodegenerative phenotype with polymerase gamma mutation. 19762913

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
dbSNP: rs119467003
rs119467003
TDP1
0.040 GeneticVariation BEFREE Spinocerebellar ataxia with axonal neuropathy (SCAN 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene. 20687496

2010
dbSNP: rs119467003
rs119467003
TDP1
0.040 GeneticVariation BEFREE The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1). 17948061

2007
dbSNP: rs119467003
rs119467003
TDP1
0.040 GeneticVariation BEFREE Hereditary spinocerebellar ataxia with axonal neuropathy (SCAN1) is caused by an inactivating mutation (H493R) in the enzyme tyrosyl-DNA phosphodiesterase (Tdp1), which removes blocked 3'-termini at DNA strand breaks. 16935573

2006
dbSNP: rs119467003
rs119467003
TDP1
0.040 GeneticVariation BEFREE The inherited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), is caused by a H493R mutation in Tdp1. 15920477

2005
dbSNP: rs387907098
rs387907098
TGM6
0.010 GeneticVariation BEFREE We further confirmed our finding by identifying another missense mutation c.980A-G transition (D327G) in exon seven of TGM6 in an additional spinocerebellar ataxia family, which also cosegregated with the phenotype. 21106500

2010
dbSNP: rs60449251
rs60449251
GFAP
0.010 GeneticVariation BEFREE We found a new heterozygous amino acid substitution, Val87Gly in exon 1 of GFAP, in the affected individuals in this family but not in 100 spinocerebellar ataxia (SCA) patients and 100 controls. 11867077

2002