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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs1801968
rs1801968
TOR1A
7 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
dbSNP: rs146170087
rs146170087
C19orf12
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 1 2018 2018
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs550921485
rs550921485
HPCA
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs142909469
rs142909469
TOR1A
2 9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs150321966
rs150321966
ECHS1
3 0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 0.700 0
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs113371321
rs113371321
NPC1
1 18 23534477 missense variant G/A;C snv 1.2E-04 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
3 1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs727502811
rs727502811
TOR1A
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs121917747
rs121917747
SPR
2 1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs146087734
rs146087734
THAP1
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs771610752
rs771610752
TH
3 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.700 1.000 3 2010 2017
dbSNP: rs104893665
rs104893665
SPR
2 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.700 1.000 5 2001 2013
dbSNP: rs374512193
rs374512193
THAP1
4 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs45471299
rs45471299
TH
2 1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
3 0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 0.700 0
dbSNP: rs34015634
rs34015634
LRRK2
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016