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: rs1561570
rs1561570
OPTN
2 0.925 0.080 10 13113726 intron variant T/C snv 0.43 0.820 1.000 4 2010 2018
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
2 0.925 0.080 8 104347204 intron variant C/T snv 0.44 0.820 0.667 3 2010 2019
dbSNP: rs10498635
rs10498635
RIN3
3 0.925 0.080 14 92636964 intron variant C/T snv 0.14 0.810 1.000 3 2010 2015
dbSNP: rs10494112
rs10494112 		2 0.925 0.080 1 109809855 downstream gene variant A/G snv 0.17 0.800 1.000 2 2010 2011
dbSNP: rs3018362
rs3018362 		4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.800 1.000 2 2010 2011
dbSNP: rs2957128
rs2957128 		2 0.925 0.080 18 62393502 downstream gene variant A/G snv 0.56 0.800 1.000 1 2010 2010
dbSNP: rs4294134
rs4294134
NUP205
2 0.925 0.080 7 135608380 intron variant A/G snv 0.76 0.800 1.000 1 2011 2011
dbSNP: rs484959
rs484959 		3 0.882 0.120 1 109823461 upstream gene variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs5742915
rs5742915
PML
7 0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 0.800 1.000 1 2011 2011
dbSNP: rs5910578
rs5910578
SLC25A43
2 0.925 0.080 X 119433739 intron variant T/A;C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs2980996
rs2980996 		2 0.925 0.080 18 62311902 downstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4941107
rs4941107
PIGN
2 0.925 0.080 18 62084098 intron variant A/G snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs499345
rs499345 		2 0.925 0.080 1 109819060 intergenic variant C/A snv 0.32 0.700 1.000 1 2010 2010
dbSNP: rs663354
rs663354
PIGN
2 0.925 0.080 18 62087057 intron variant C/T snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs825411
rs825411
OPTN
2 0.925 0.080 10 13127374 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9636100
rs9636100
PIGN
2 0.925 0.080 18 62044077 3 prime UTR variant A/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.100 1.000 25 2002 2018
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2008 2012
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2012 2018
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.020 1.000 2 2009 2020
dbSNP: rs368933511
rs368933511
SQSTM1 ; MRNIP
5 0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2008 2009
dbSNP: rs771966860
rs771966860
SQSTM1 ; MRNIP
2 0.925 0.040 5 179836480 missense variant A/G snv 1.6E-05 1.4E-05 0.020 1.000 2 2005 2005
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1162100771
rs1162100771
TNFSF11
1 1.000 0.040 13 42581288 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.010 1.000 1 2012 2012