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: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
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 2020 2020
dbSNP: rs77960347
rs77960347
LIPG
6 18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.030 1.000 3 2015 2019
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2008 2019
dbSNP: rs9296158
rs9296158
FKBP5 ; LOC112267956
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.020 1.000 2 2015 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1403522266
rs1403522266
GABRB1
1 4 47320137 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1409851868
rs1409851868
EPHA3
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1475157
rs1475157 		1 6 6016936 intergenic variant A/G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs161645
rs161645
LOC105379109
2 1.000 0.040 5 104734216 intron variant A/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs2227631
rs2227631
SERPINE1
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs3756290
rs3756290
RAPGEF6
1 5 131616057 intron variant A/G snv 0.56 0.010 < 0.001 1 2017 2017
dbSNP: rs5440
rs5440
GNB3 ; P3H3
1 12 6839735 3 prime UTR variant A/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs58682566
rs58682566
EPG5
1 18 45951902 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2008 2008
dbSNP: rs7973260
rs7973260
KSR2
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs112025902
rs112025902 		4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10055255
rs10055255
CRHBP
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1922242
rs1922242
ABCB1
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011