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: rs1290094897
rs1290094897
2 1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs34884217
rs34884217
2 0.925 0.080 4 950422 splice acceptor variant A/C snv 7.0E-02 6.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
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: rs748055361
rs748055361
GAK
2 0.925 0.080 4 882749 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs886042808
rs886042808
1 1.000 0.040 6 41161481 missense variant C/G;T snv 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2019 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10079250
rs10079250
7 0.827 0.120 5 150070569 missense variant T/C snv 9.9E-02 8.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10410544
rs10410544
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1058885
rs1058885
2 0.925 0.080 1 109923844 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2019 2019
dbSNP: rs10878307
rs10878307
1 1.000 0.040 12 40278187 missense variant A/G snv 5.8E-02 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 < 0.001 1 2019 2019
dbSNP: rs12778366
rs12778366
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1388429104
rs1388429104
1 1.000 0.040 7 80656693 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs139650807
rs139650807
3 0.925 0.080 14 22875867 missense variant T/A;C snv 6.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs1477422925
rs1477422925
1 1.000 0.040 1 247418853 missense variant T/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs148038848
rs148038848
1 1.000 0.040 22 39521605 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1524282
rs1524282
1 1.000 0.040 7 109606047 intergenic variant A/G snv 6.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2019 2019