POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138249161
rs138249161
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0