Source: ALL
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: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.020 1.000 2 2002 2010
dbSNP: rs121908212
rs121908212
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs104894699
rs104894699
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057520918
rs1057520918
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1135401778
rs1135401778
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs11538758
rs11538758
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs118204095
rs118204095
3 1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs118204096
rs118204096
3 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs120074125
rs120074125
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1208917022
rs1208917022
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908217
rs121908217
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908225
rs121908225
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121908230
rs121908230
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918514
rs121918514
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918544
rs121918544
7 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1269252748
rs1269252748
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1318256630
rs1318256630
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1320457487
rs1320457487
3 1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1335702493
rs1335702493
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs137852763
rs137852763
6 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs181109321
rs181109321
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999