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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 1.000 7 2000 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.833 6 2009 2019
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: 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: 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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.667 3 2003 2008
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: 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: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.730 1.000 3 2000 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2017
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: 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: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2011 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: rs12537531
rs12537531
DNAH11
1 1.000 0.160 7 21892426 missense variant C/G;T snv 1.8E-04; 0.39 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: 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: 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