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: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2016 2016
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1859788
rs1859788
PILRA
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.010 1.000 1 2019 2019
dbSNP: rs8063
rs8063
UBE2I
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs4837766
rs4837766
CDK5RAP2
2 0.925 0.080 9 120402006 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9357347
rs9357347
LOC107986595
4 0.851 0.080 6 41182853 intergenic variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2011
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.020 0.500 2 2019 2019
dbSNP: rs10407447
rs10407447
PLD3
1 1.000 0.040 19 40363275 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs12053868
rs12053868
IL1RAP
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs16947151
rs16947151
ABI3
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2018 2018
dbSNP: rs35445101
rs35445101
HLA-DRB1
2 0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs543293
rs543293 		3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs6598008
rs6598008
CDHR5
2 0.925 0.080 11 618172 intron variant A/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs9340803
rs9340803
ESR1
2 0.925 0.080 6 151842832 intron variant A/G snv 1.0E-03 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs4829605
rs4829605 		1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
dbSNP: rs1334496
rs1334496 		1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015