Source: CLINVAR

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: rs1564617866
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0