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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2011 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2012
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.040 1.000 4 2003 2014
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 1999 2017
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.030 1.000 3 2001 2018
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.030 1.000 3 2010 2017
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2000 2016
dbSNP: rs63750376
rs63750376
7 0.827 0.120 17 45996657 missense variant G/T snv 0.030 1.000 3 2003 2006
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2015
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2011
dbSNP: rs17125721
rs17125721
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2005 2019
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2012 2013
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2010 2011
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2010 2011
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.020 1.000 2 2013 2014
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2016
dbSNP: rs28936380
rs28936380
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2014 2016
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 0.500 2 2006 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2008 2012