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: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.020 1.000 2 2008 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2008 2013
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: 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: 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: 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: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.030 0.667 3 2012 2015
dbSNP: rs751398082
rs751398082
TSC1
1 1.000 0.040 9 132896322 missense variant A/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs550526986
rs550526986
TSC1
1 1.000 0.040 9 132896452 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 0.010 1.000 1 2017 2017
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: 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: rs4954218
rs4954218
MAP3K19
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.740 1.000 4 2012 2017
dbSNP: rs1324183
rs1324183 		2 1.000 0.040 9 13557492 intron variant A/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs6430585
rs6430585
UBXN4
2 1.000 0.040 2 135749357 intron variant A/C snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs371923032
rs371923032
TGFBI
1 1.000 0.040 5 136056715 missense variant G/A;T snv 1.6E-05; 1.6E-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: 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: 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: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
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: 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: 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: rs752603642
rs752603642
TSC2
2 0.925 0.160 16 2072888 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs45517234
rs45517234
TSC2
2 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017