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: rs1041833271
rs1041833271
APP
2 0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12734374
rs12734374
ASH1L
2 1.000 0.080 1 155419060 intron variant A/T snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1446915570
rs1446915570
PSEN1
2 0.925 0.080 14 73173623 synonymous variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs377591051
rs377591051
PRKN
4 0.851 0.080 6 162262651 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs72824905
rs72824905
PLCG2
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 0.020 1.000 2 2018 2019
dbSNP: rs35749011
rs35749011 		2 0.925 0.080 1 155162560 intergenic variant G/A snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs616338
rs616338
ABI3
2 0.925 0.080 17 49219935 missense variant T/C snv 0.99 0.99 0.010 1.000 1 2018 2018
dbSNP: rs7681440
rs7681440
SNCA ; SNCA-AS1
1 1.000 0.080 4 89835399 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs897984
rs897984
BCL7C ; MIR4519 ; MIR762HG
2 0.925 0.080 16 30875322 non coding transcript exon variant T/C snv 0.62 0.47 0.700 1.000 1 2018 2018
dbSNP: rs1330229174
rs1330229174
SNCA ; SNCA-AS1
2 0.925 0.080 4 89835568 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs777296100
rs777296100
SNCA
2 0.925 0.080 4 89725318 3 prime UTR variant -/TAA;TAAAA ins 0.010 1.000 1 2017 2017
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 2016 2016
dbSNP: rs7133914
rs7133914
LRRK2
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs7308720
rs7308720
LRRK2
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2015 2019
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 3 2014 2019
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.710 1.000 1 2014 2014
dbSNP: rs2306604
rs2306604
TFAM
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs112176450
rs112176450
EIF4G1
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs113388242
rs113388242
EIF4G1
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011