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: rs141772938
rs141772938
ACO2
1 1.000 22 41507837 missense variant C/G snv 3.7E-03 3.8E-03 0.800 1.000 1 2014 2014
dbSNP: rs752034900
rs752034900
ACO2 ; POLR3H
1 1.000 22 41527315 missense variant G/A snv 4.0E-06 0.800 1.000 1 2014 2014