Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1269252748
rs1269252748
9 2641436 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748
9 2641436 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia
0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748
9 2641436 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748
9 2641436 missense variant C/T snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 1.000 1 2009 2009