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 2016 2016
dbSNP: rs4635002
rs4635002
DOCK1
3 0.925 0.080 10 127064415 intron variant A/C snv 0.92 0.010 1.000 1 2011 2011
dbSNP: rs7624041
rs7624041 		1 1.000 0.080 3 94389819 intergenic variant G/A snv 0.89 0.700 1.000 1 2020 2020
dbSNP: rs1760893
rs1760893
TEP1
6 0.807 0.080 14 20412501 intron variant C/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs629367
rs629367
MIR100HG ; MIRLET7A2
11 0.776 0.200 11 122146306 intron variant C/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs7853122
rs7853122
RAPGEF1
3 0.925 0.080 9 131705224 intron variant C/T snv 0.87 0.010 1.000 1 2011 2011
dbSNP: rs40239
rs40239
MET
4 0.851 0.120 7 116677823 intron variant G/A snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs1279599
rs1279599
AMD1
2 0.925 0.080 6 110879025 intron variant G/A snv 0.87 0.010 1.000 1 2015 2015
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2016 2016
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.030 1.000 3 2006 2019
dbSNP: rs1051690
rs1051690
INSR
4 0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs1679709
rs1679709
NKAPL ; ZKSCAN4
2 0.925 0.080 6 28260564 missense variant A/G snv 0.87 0.83 0.010 1.000 1 2017 2017
dbSNP: rs5030625
rs5030625
CDH1
3 0.882 0.160 16 68736944 upstream gene variant A/- del 0.80 0.010 1.000 1 2016 2016
dbSNP: rs1864169
rs1864169
GTF2A1 ; SNORA79
5 0.851 0.200 14 81203689 intron variant G/T snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs526934
rs526934
TCN1
3 0.925 0.080 11 59866020 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.100 0.833 12 2012 2019
dbSNP: rs1520220
rs1520220
IGF1 ; LINC02456
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.750 16 2002 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 2012 2014
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 0.100 0.733 15 2010 2017
dbSNP: rs10022537
rs10022537
PROM1
2 0.925 0.080 4 16075214 intron variant A/T snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs461404
rs461404
PRKAA1
3 0.925 0.080 5 40799438 upstream gene variant G/A snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1635566
rs1635566
PADI4
1 1.000 0.080 1 17356662 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018