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: rs267606695
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0013421
Disease: Dystonia
Dystonia
0.010 1.000 1 2009 2009