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: rs8177375
rs8177375
2 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 0.010 1.000 1 2010 2010
dbSNP: rs10506481
rs10506481
3 0.882 0.080 12 66250331 3 prime UTR variant T/C snv 9.0E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs5743867
rs5743867
3 0.882 0.120 11 1307121 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.030 1.000 3 2012 2017
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.020 1.000 2 2012 2018
dbSNP: rs2234237
rs2234237
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.020 0.500 2 2012 2019
dbSNP: rs2249825
rs2249825
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.020 1.000 2 2012 2019
dbSNP: rs11465996
rs11465996
7 0.790 0.240 8 73989727 upstream gene variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs2234246
rs2234246
5 0.827 0.240 6 41276002 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4755453
rs4755453
2 0.925 0.080 11 36509094 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs497116
rs497116
2 0.925 0.080 11 104892390 stop lost A/G snv 4.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs61330082
rs61330082
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs9770242
rs9770242
5 0.851 0.240 7 106285885 5 prime UTR variant C/A snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs11137480
rs11137480
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2013 2013
dbSNP: rs41279766
rs41279766
2 0.925 0.080 2 118970217 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
dbSNP: rs7022797
rs7022797
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2014 2014