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: rs112384084
rs112384084
TNK2
1 1.000 0.040 3 195867623 missense variant C/T snv 1.4E-02 1.1E-02 0.700 0
dbSNP: rs10214163
rs10214163
SV2C
1 1.000 0.040 5 75998585 intergenic variant C/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs10410544
rs10410544
SIRT2
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 < 0.001 1 2019 2019
dbSNP: rs11651671
rs11651671
ATP6V0A1 ; MIR548AT
1 1.000 0.040 17 42494785 mature miRNA variant G/A;T snv 0.24; 2.8E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2016 2016
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1350882940
rs1350882940
RMDN1
2 1.000 0.040 8 86507057 missense variant T/A snv 1.4E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs140758033
rs140758033
PLA2G6 ; BAIAP2L2
1 1.000 0.040 22 38112165 missense variant G/C snv 8.6E-04 2.5E-04 0.010 < 0.001 1 2011 2011
dbSNP: rs1411478
rs1411478
STX6
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.010 < 0.001 1 2013 2013
dbSNP: rs146017617
rs146017617
NEUROG2 ; NEUROG2-AS1
1 1.000 0.040 4 112514858 missense variant G/C snv 1.1E-03 1.3E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs150689919
rs150689919
TET1
1 1.000 0.040 10 68573798 missense variant C/T snv 4.2E-03 1.8E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs17571
rs17571
CTSD
6 0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2016 2016
dbSNP: rs17587
rs17587
PSMB9
8 0.807 0.280 6 32857313 missense variant G/A;T snv 0.24; 4.1E-06; 4.1E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs1800955
rs1800955
DRD4
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs200221361
rs200221361
EIF4G1
1 1.000 0.040 3 184321987 missense variant C/A snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2007153
rs2007153
DBH
3 0.882 0.080 9 133638697 intron variant T/C snv 0.61 0.010 < 0.001 1 2018 2018
dbSNP: rs200923931
rs200923931
NEUROG2 ; NEUROG2-AS1
1 1.000 0.040 4 112515310 missense variant C/A;G;T snv 1.5E-03; 1.5E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs2283123
rs2283123
DBH
3 0.882 0.080 9 133650175 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2435207
rs2435207
MAPT
2 1.000 0.040 17 45981562 intron variant G/A snv 0.30 0.010 < 0.001 1 2009 2009
dbSNP: rs2470890
rs2470890
CYP1A2
12 0.742 0.320 15 74755085 synonymous variant T/C snv 0.57 0.010 < 0.001 1 2011 2011