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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
3 0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05 0.010 1.000 1 2005 2005
dbSNP: rs148402804
rs148402804
ZNF687
3 0.925 0.040 1 151289853 missense variant C/A;G;T snv 2.4E-04; 2.1E-04; 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs1489694587
rs1489694587
DMD
3 0.882 0.120 X 31172385 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs149268042
rs149268042
DKK1 ; PRKG1-AS1
1 1.000 0.040 10 52315038 missense variant G/T snv 2.9E-03 2.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1569198
rs1569198
DKK1
4 0.851 0.200 10 52316511 intron variant A/G snv 0.41 0.42 0.010 < 0.001 1 2013 2013
dbSNP: rs17152980
rs17152980
UCMA
1 1.000 0.040 10 13234751 upstream gene variant G/C snv 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2004 2004
dbSNP: rs1805034
rs1805034
TNFRSF11A
12 0.742 0.360 18 62360008 missense variant C/T snv 0.54 0.56 0.010 1.000 1 2012 2012
dbSNP: rs1864183
rs1864183
ATG10
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2015 2015