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: rs74315353
rs74315353
PARK7
2 0.925 0.040 1 7965425 missense variant G/C snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs74315360
rs74315360
PINK1
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1171614044
rs1171614044
PLA2G6 ; BAIAP2L2
1 1.000 0.040 22 38112243 missense variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1189803871
rs1189803871
PRKN
1 1.000 0.040 6 161548929 synonymous variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1345514
rs1345514
EN2
1 1.000 0.040 7 155456455 intron variant C/T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs139093920
rs139093920
PLA2G6 ; BAIAP2L2
1 1.000 0.040 22 38112241 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs3808330
rs3808330
EN2
1 1.000 0.040 7 155463312 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2009 2009