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: rs2234759
rs2234759
1 1.000 0.120 4 155208405 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs360719
rs360719
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs644236
rs644236
5 0.882 0.320 5 31409008 non coding transcript exon variant T/C snv 0.31 0.35 0.010 1.000 1 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2007 2013
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.030 1.000 3 2002 2009
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2005
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2017 2018
dbSNP: rs36117895
rs36117895
1 1.000 0.120 3 11358545 missense variant T/C snv 3.2E-02 3.9E-02 0.020 1.000 2 2010 2013
dbSNP: rs4746
rs4746
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.020 1.000 2 2008 2010
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2006
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2006
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2005
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1170668763
rs1170668763
1 1.000 0.120 17 42818395 missense variant T/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs1272951905
rs1272951905
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1382597320
rs1382597320
3 0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs150393409
rs150393409
3 0.882 0.200 15 30910758 missense variant G/A;C snv 6.6E-03; 6.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2017 2017