Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894106
rs104894106
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		T 0.810 CausalMutation CLINVAR

dbSNP: rs104894107
rs104894107
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894105
rs104894105
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs146818694
rs146818694
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		G 0.720 CausalMutation CLINVAR

dbSNP: rs138471431
rs138471431
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.710 GeneticVariation UNIPROT

dbSNP: rs138034837
rs138034837
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.710 GeneticVariation UNIPROT

dbSNP: rs886037630
rs886037630
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		TACACCTTGAGGACA 0.700 CausalMutation CLINVAR

dbSNP: rs56214919
rs56214919
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs142157346
rs142157346
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs141935559
rs141935559
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs140987490
rs140987490
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs104894108
rs104894108
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894106
rs104894106
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs104894107
rs104894107
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs104894105
rs104894105
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs144104124
rs144104124
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs139616452
rs139616452
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs104894106
rs104894106
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs104894106
rs104894106
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998
dbSNP: rs104894107
rs104894107
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998
dbSNP: rs104894107
rs104894107
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs104894105
rs104894105
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs104894105
rs104894105
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998
dbSNP: rs144104124
rs144104124
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.700 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs144104124
rs144104124
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.700 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998