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: rs1057519629
rs1057519629
1 16 2498332 missense variant C/G,T snp 2.1E-05 3.2E-05 0.700 2 2017 2017
dbSNP: rs1057519630
rs1057519630
1 16 2496552 missense variant C/T snp 4.1E-06 0.700 2 2017 2017
dbSNP: rs1057518882
rs1057518882
ND6
2 MT 14598 missense variant snp 0.700 1 2015 2015
dbSNP: rs421016
rs421016
GBA
11 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
dbSNP: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.100 0.938 16 2005 2016
dbSNP: rs63750756
rs63750756
18 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.050 1.000 5 2000 2016
dbSNP: rs398122403
rs398122403
4 0.923 0.036 21 32695106 missense variant C/T snp 1.2E-05 0.040 1.000 4 2014 2016
dbSNP: rs33939927
rs33939927
18 0.734 0.107 12 40310434 missense variant C/A,G,T snp 4.0E-06; 1.2E-05 0.030 1.000 3 2008 2015
dbSNP: rs113994099
rs113994099
8 0.878 0.179 15 89320883 missense variant T/C snp 0.020 1.000 2 2007 2014
dbSNP: rs121917763
rs121917763
TH
4 1.000 0.036 11 2167896 missense variant A/G snp 1.2E-05 0.020 1.000 2 1997 2000
dbSNP: rs35801418
rs35801418
9 0.784 0.143 12 40321114 missense variant A/G snp 0.020 1.000 2 2007 2014
dbSNP: rs387907571
rs387907571
6 0.821 0.071 3 132477995 missense variant A/G snp 4.2E-06 0.020 1.000 2 2015 2015
dbSNP: rs63751438
rs63751438
12 0.784 0.107 17 46010388 missense variant C/T snp 0.020 1.000 2 2003 2009
dbSNP: rs74315356
rs74315356
2 1.000 0.036 1 20649054 stop gained G/A snp 4.0E-06 0.020 1.000 2 2007 2008
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 < 0.001 1 2010 2010
dbSNP: rs104893875
rs104893875
11 0.756 0.107 4 89828170 missense variant C/T snp 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2001 2001
dbSNP: rs104894685
rs104894685
FTL
4 0.923 0.107 19 48966317 missense variant G/A snp 4.0E-06 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs111501952
rs111501952
2 1.000 0.036 12 40310461 missense variant G/A snp 4.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs112176450
rs112176450
5 0.846 0.071 3 184327401 missense variant G/A snp 2.1E-04 1.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs113388242
rs113388242
2 1.000 0.071 3 184327376 missense variant C/T snp 4.0E-05 9.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs113994097
rs113994097
18 0.715 0.286 15 89323426 missense variant C/G snp 9.7E-04 1.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs121908683
rs121908683
5 0.923 0.071 22 38115667 missense variant G/A snp 9.0E-06 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs121908686
rs121908686
5 0.923 0.036 22 38112558 missense variant C/T snp 9.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs121918304
rs121918304
4 0.923 0.071 22 32498453 stop gained C/A,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015