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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.070 0.857 7 2003 2019
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.040 0.750 4 2001 2011
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: rs1128226
rs1128226
DNAH11 ; CDCA7L
1 1.000 0.160 7 21902051 3 prime UTR variant A/C snv 0.34 0.700 1.000 2 2011 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2017
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: 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: 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: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.710 1.000 2 2011 2016
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