Gene: COL6A3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs182976977
rs182976977
COL6A3
0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199

2015
dbSNP: rs541928674
rs541928674
COL6A3
0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199

2015
dbSNP: rs552651651
rs552651651
COL6A3
0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199

2015
dbSNP: rs398124119
rs398124119
COL6A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs764193290
rs764193290
COL6A3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs767517186
rs767517186
COL6A3
G 0.700 CausalMutation CLINVAR

dbSNP: rs786205870
rs786205870
COL6A3
0.700 GeneticVariation UNIPROT