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: rs56285021
rs56285021
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.020 1.000 2 2002 2008
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.020 0.500 2 2002 2002
dbSNP: rs1258359845
rs1258359845
1 1.000 0.040 6 161360092 synonymous variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1277892620
rs1277892620
2 0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2958720
rs2958720
1 1.000 0.040 15 78466335 missense variant C/G snv 2.8E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs376011164
rs376011164
1 1.000 0.040 15 78471857 missense variant C/G snv 4.4E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.100 1.000 13 2003 2017
dbSNP: rs74315351
rs74315351
6 0.807 0.080 1 7962863 missense variant G/A snv 0.050 0.600 5 2003 2016
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.030 0.667 3 2003 2020
dbSNP: rs28937592
rs28937592
1 1.000 0.040 5 122450708 missense variant C/G;T snv 3.3E-03 0.030 1.000 3 2003 2008
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2003 2005
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs1561244
rs1561244
1 1.000 0.040 2 72902257 intergenic variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs1876487
rs1876487
SPR
2 1.000 0.040 2 72887223 upstream gene variant A/C snv 0.54 0.010 1.000 1 2003 2003
dbSNP: rs2421095
rs2421095
SPR
1 1.000 0.040 2 72886395 upstream gene variant G/A snv 0.86 0.010 1.000 1 2003 2003
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.100 0.955 22 2004 2020
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.100 0.950 20 2004 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.933 15 2004 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.100 0.700 10 2004 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.500 6 2004 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 1.000 6 2004 2017
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.050 0.800 5 2004 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2004 2016
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.030 0.667 3 2004 2019