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: rs121908683
rs121908683
PLA2G6
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1296383102
rs1296383102
HIBCH
2 2 190208898 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
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: 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: rs1476648522
rs1476648522
TOR1A
2 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
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: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
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
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: rs397514477
rs397514477
C19orf12
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
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: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs753374463
rs753374463
GNAL
2 18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs761104644
rs761104644
ZNF415
2 19 53109614 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs775863165
rs775863165
HPCA
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs786205675
rs786205675
HPCA
3 1.000 0.080 1 32889123 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs796065306
rs796065306
ADCY5
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
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: rs864309484
rs864309484
ADCY5
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0