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: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.710 1.000 2 2015 2016
dbSNP: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs17032980
rs17032980 		3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs4463516
rs4463516 		3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7818688
rs7818688
NDUFAF6
3 1.000 0.120 8 95011854 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2012 2015
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187080 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs113993956
rs113993956
MYH14
3 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11974610
rs11974610
GJC3
2 7 99930354 intron variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs121434508
rs121434508
TMEM126A
3 1.000 0.120 11 85654139 stop gained C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs121909112
rs121909112
HSPB1
7 0.882 0.080 7 76303855 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs12521798
rs12521798
LOC105379048
2 5 79890115 intergenic variant T/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs12568757
rs12568757
CTSS
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011