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: rs786200924
rs786200924
ACO2
1 1.000 22 41507953 missense variant C/G snv 0.800 1.000 2 2012 2014
dbSNP: rs786204828
rs786204828
ACO2
1 1.000 22 41515858 missense variant G/A snv 0.800 0
dbSNP: rs786204829
rs786204829
ACO2 ; POLR3H
1 1.000 22 41528022 missense variant G/C snv 0.800 0
dbSNP: rs1114167284
rs1114167284
ACO2 ; POLR3H
1 1.000 22 41528607 frameshift variant CA/- delins 0.700 0
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs786204830
rs786204830
ACO2 ; POLR3H
1 1.000 22 41528595 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
9 0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 0.700 0