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: rs1324183
rs1324183 		2 1.000 0.040 9 13557492 intron variant A/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs1536482
rs1536482 		3 1.000 0.040 9 134548682 upstream gene variant G/A snv 0.36 0.030 1.000 3 2013 2015
dbSNP: rs2288393
rs2288393
LOX
1 1.000 0.040 5 122077195 non coding transcript exon variant C/A;G snv 0.030 0.667 3 2012 2015
dbSNP: rs2721051
rs2721051 		3 1.000 0.040 13 40536747 intron variant C/T snv 8.6E-02 0.030 1.000 3 2013 2015
dbSNP: rs2956540
rs2956540
LOX ; SRFBP1
1 1.000 0.040 5 122073485 intron variant G/A;C snv 0.030 1.000 3 2015 2015
dbSNP: rs4894535
rs4894535
FNDC3B
2 1.000 0.040 3 172277815 intron variant C/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs7044529
rs7044529
COL5A1
2 1.000 0.040 9 134676205 intron variant C/T snv 0.21 0.030 1.000 3 2013 2015
dbSNP: rs74315432
rs74315432
VSX1
2 0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.030 0.667 3 2002 2011
dbSNP: rs191047852
rs191047852
DOCK9
1 1.000 0.040 13 98885709 missense variant T/G snv 6.9E-05 3.5E-05 0.020 1.000 2 2012 2015
dbSNP: rs2229813
rs2229813
COL4A4
1 1.000 0.040 2 227028004 missense variant C/G;T snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs41280052
rs41280052
MIR184 ; ANKRD34C-AS1
1 1.000 0.040 15 79209826 non coding transcript exon variant G/T snv 9.9E-03 1.1E-02 0.020 < 0.001 2 2013 2016
dbSNP: rs4434401
rs4434401
CAST
2 0.925 0.040 5 96703321 intron variant T/C snv 0.45 0.020 1.000 2 2013 2018
dbSNP: rs6050307
rs6050307
VSX1
1 1.000 0.040 20 25081706 missense variant G/A;T snv 9.7E-06; 7.2E-03 0.020 1.000 2 2013 2015
dbSNP: rs10519694
rs10519694
LOX ; SRFBP1
1 1.000 0.040 5 122071524 intron variant C/T snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1054765878
rs1054765878
PROB1
1 1.000 0.040 5 139394555 missense variant C/T snv 2.1E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1114167279
rs1114167279
PROB1
1 1.000 0.040 5 139394411 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs12407427
rs12407427 		1 1.000 0.040 1 245133143 downstream gene variant C/T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs12480307
rs12480307
VSX1
1 1.000 0.040 20 25078910 synonymous variant T/C snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1274585667
rs1274585667
ZNF469
1 1.000 0.040 16 88434118 missense variant G/C snv 5.2E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs140122268
rs140122268
VSX1
1 1.000 0.040 20 25079507 missense variant G/C snv 3.4E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs1420366140
rs1420366140
ZNF469 ; LOC112268182
1 1.000 0.040 16 88429410 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs143168379
rs143168379
TSC2
1 1.000 0.040 16 2080180 missense variant G/A;C;T snv 8.0E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs149509568
rs149509568
ZBTB20 ; TIGIT ; MIR568
1 1.000 0.040 3 114316541 mature miRNA variant A/G snv 4.0E-06 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs201298520
rs201298520
IL17B ; PCYOX1L
1 1.000 0.040 5 149374385 missense variant C/T snv 4.3E-05 8.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs201716527
rs201716527
VSX1
1 1.000 0.040 20 25079487 missense variant T/C snv 7.6E-05 3.5E-05 0.010 1.000 1 2008 2008