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: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs1524668
rs1524668
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs2664581
rs2664581
PI3
3 0.882 0.120 20 45175881 missense variant A/C snv 0.16 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2808530
rs2808530
2 0.925 0.080 9 98576823 intron variant A/C snv 0.12 0.010 1.000 1 2018 2018
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: rs595209
rs595209
2 0.925 0.080 11 126292326 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs6958571
rs6958571
3 0.925 0.080 7 30446094 intron variant A/C;G snv 1.2E-05; 0.25; 5.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs1764390
rs1764390
3 0.882 0.160 1 34794360 missense variant A/C;G;T snv 0.61 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
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: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2014 2016
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.020 1.000 2 2014 2015
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs11666254
rs11666254
2 0.925 0.080 19 51759909 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs11684747
rs11684747
2 0.925 0.080 2 9557042 upstream gene variant A/G snv 0.19 0.010 1.000 1 2016 2016
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: rs12692386
rs12692386
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
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: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs4648068
rs4648068
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs4684846
rs4684846
3 0.882 0.080 3 12297350 intron variant A/G snv 0.28 0.010 1.000 1 2018 2018
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: 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: rs57095329
rs57095329
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014