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: rs756168629
rs756168629
LRP1B
2 1.000 0.160 2 140841050 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs7571570
rs7571570
DTNB
1 1.000 0.160 2 25398661 intron variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs7586918
rs7586918
DTNB
1 1.000 0.160 2 25403516 intron variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs7589394
rs7589394
DTNB ; DTNB-AS1
1 1.000 0.160 2 25438875 intron variant C/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs79480871
rs79480871 		2 0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.050 1.000 5 2012 2018
dbSNP: rs1052501
rs1052501
ULK4
2 0.925 0.160 3 41883906 missense variant C/G;T snv 0.80 0.810 1.000 3 2011 2014
dbSNP: rs2272007
rs2272007
ULK4
2 1.000 0.160 3 41954644 missense variant T/C snv 0.79 0.67 0.800 1.000 3 2011 2013
dbSNP: rs6599175
rs6599175
ULK4
1 1.000 0.160 3 41744517 intron variant T/C snv 0.32 0.800 1.000 3 2011 2013
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.810 1.000 2 2013 2014
dbSNP: rs1125203
rs1125203
ULK4
1 1.000 0.160 3 41719403 intron variant T/C snv 0.33 0.700 1.000 2 2011 2013
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.800 1.000 2 2013 2017
dbSNP: rs17215589
rs17215589
ULK4
1 1.000 0.160 3 41789711 missense variant C/A;T snv 0.12 0.700 1.000 2 2011 2013
dbSNP: rs1994157
rs1994157
ULK4
1 1.000 0.160 3 41855990 intron variant G/A snv 0.18 0.700 1.000 2 2011 2013
dbSNP: rs2128835
rs2128835
ULK4
1 1.000 0.160 3 41821381 intron variant A/G snv 0.26 0.700 1.000 2 2011 2013
dbSNP: rs3774372
rs3774372
ULK4
4 1.000 0.160 3 41835922 missense variant T/C snv 0.17 0.18 0.700 1.000 2 2011 2013
dbSNP: rs6599192
rs6599192
ULK4
1 1.000 0.160 3 41950916 intron variant G/A snv 0.68 0.800 1.000 2 2011 2016
dbSNP: rs6763508
rs6763508
ULK4
4 0.851 0.160 3 41709497 intron variant T/C snv 0.30 0.800 1.000 2 2011 2017
dbSNP: rs73071352
rs73071352
ULK4
3 0.882 0.160 3 41786808 intron variant A/G snv 0.12 0.800 1.000 2 2011 2015
dbSNP: rs1016669
rs1016669
ULK4
1 1.000 0.160 3 41852948 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10212536
rs10212536
ULK4
1 1.000 0.160 3 41785534 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1025646
rs1025646
ULK4
1 1.000 0.160 3 41712930 intron variant A/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs10452020
rs10452020
ULK4
1 1.000 0.160 3 41774459 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10452022
rs10452022
ULK4
1 1.000 0.160 3 41774550 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1045433
rs1045433
TRNT1 ; CRBN
1 1.000 0.160 3 3149742 non coding transcript exon variant T/C snv 0.15 0.010 1.000 1 2016 2016