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: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.710 1.000 2 2010 2012
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2014 2014
dbSNP: rs7969255
rs7969255
PRANCR
1 1.000 0.120 12 70148026 intron variant T/G snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 1997 1997
dbSNP: rs150303591
rs150303591
FRAS1
1 1.000 0.120 4 78088155 intron variant C/T snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs711830
rs711830
HOXD3 ; HAGLR
3 0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 0.500 2 2008 2012
dbSNP: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs6134303
rs6134303 		1 1.000 0.120 20 11586401 intergenic variant T/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs17693104
rs17693104
SH2D4B
1 1.000 0.120 10 80608465 intron variant T/C snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs1467465
rs1467465
THEMIS2
7 0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014
dbSNP: rs230521
rs230521
NFKB1
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs7953249
rs7953249
HNF1A-AS1
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs3923087
rs3923087
AXIN2
5 0.827 0.160 17 65553143 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1836724
rs1836724
ERBB4
6 0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018