Gene: POLR3H ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
1 22 41527919 frameshift variant AG/- del 0.700 1.000 4 2012 2017