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: rs1135401743
rs1135401743
HAAO ; MTA3
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744
KYNU
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880
KYNU
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
KYNU
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0