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: rs1003918
rs1003918
LIG3
2 0.925 0.080 17 35005158 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2018 2018
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: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 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: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.010 1.000 1 2015 2015
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: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
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
dbSNP: rs202105296
rs202105296
HKDC1
1 1.000 0.040 10 69243340 missense variant G/A snv 8.5E-05 1.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs2228555
rs2228555
COL4A4
1 1.000 0.040 2 227008279 synonymous variant T/C snv 0.56 0.58 0.010 < 0.001 1 2015 2015
dbSNP: rs2228557
rs2228557
COL4A4
1 1.000 0.040 2 227007466 synonymous variant G/A snv 0.47 0.48 0.010 1.000 1 2019 2019