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: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1106634
rs1106634
5 0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11754661
rs11754661
6 0.851 0.120 6 150885942 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs139315125
rs139315125
7 0.851 0.080 1 7809900 missense variant A/G snv 5.6E-03 5.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1863918
rs1863918
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs2300478
rs2300478
6 0.851 0.120 2 66554321 intron variant T/G snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2735343
rs2735343
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2016 2016
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 2016 2016
dbSNP: rs4880213
rs4880213
6 0.827 0.160 9 137136549 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs701848
rs701848
10 0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs763201736
rs763201736
8 0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1417938
rs1417938
CRP
10 0.776 0.320 1 159714396 intron variant T/A;C snv 0.28 0.030 1.000 3 2015 2018
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2015 2015
dbSNP: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs13440581
rs13440581
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1415259
rs1415259
5 0.925 0.080 1 162115519 intron variant C/T snv 0.54 0.010 1.000 1 2015 2015