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: rs4487645
rs4487645
DNAH11
3 0.882 0.200 7 21898622 intron variant C/A;T snv 0.810 1.000 4 2011 2014
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: rs6746082
rs6746082
DTNB ; DTNB-AS1
1 1.000 0.160 2 25436375 intron variant A/C;T snv 0.810 1.000 3 2011 2014
dbSNP: rs7577599
rs7577599
DTNB
1 1.000 0.160 2 25390277 intron variant T/C snv 0.26 0.800 1.000 3 2011 2016
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: rs12234262
rs12234262
CDCA7L
1 1.000 0.160 7 21909685 intron variant C/T snv 0.49 0.700 1.000 2 2011 2013
dbSNP: rs139371
rs139371
CBX7
1 1.000 0.160 22 39123191 intron variant T/C;G snv 0.800 1.000 2 2013 2013
dbSNP: rs17507636
rs17507636
CTB-30L5.1
1 1.000 0.160 7 106650672 intron variant C/T snv 0.23 0.700 1.000 2 2016 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2016 2018
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: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.020 1.000 2 2015 2019
dbSNP: rs2285803
rs2285803
PSORS1C1 ; PSORS1C2
2 0.925 0.160 6 31139481 intron variant T/C snv 0.72 0.810 1.000 2 2013 2014
dbSNP: rs2390595
rs2390595
DNAH11
1 1.000 0.160 7 21875846 intron variant G/A;T snv 0.700 1.000 2 2011 2013
dbSNP: rs35469450
rs35469450
DNAH11
1 1.000 0.160 7 21899764 intron variant A/G snv 0.22 0.700 1.000 2 2011 2013
dbSNP: rs4273077
rs4273077
TNFRSF13B
4 0.925 0.160 17 16945825 intron variant A/G snv 0.13 0.810 1.000 2 2013 2014
dbSNP: rs4636103
rs4636103
DNAH11
1 1.000 0.160 7 21898370 intron variant C/G;T snv 0.33 0.700 1.000 2 2011 2013
dbSNP: rs57104699
rs57104699
DNAH11
3 0.882 0.160 7 21888461 intron variant C/A snv 0.26 0.800 1.000 2 2011 2015
dbSNP: rs6461614
rs6461614
DNAH11
1 1.000 0.160 7 21888909 intron variant T/C snv 0.54 0.700 1.000 2 2011 2013
dbSNP: rs6546183
rs6546183
DTNB
1 1.000 0.160 2 25448937 intron variant G/A;T snv 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: rs6949101
rs6949101
DNAH11
1 1.000 0.160 7 21890138 intron variant T/C snv 0.22 0.700 1.000 2 2011 2013
dbSNP: rs72773978
rs72773978
FOPNL
1 1.000 0.160 16 15880785 intron variant A/T snv 8.1E-02 0.710 1.000 2 2015 2018
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