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: 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: 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: rs9938149
rs9938149 		4 0.925 0.160 16 88298034 intron variant C/A snv 0.66 0.030 0.667 3 2013 2017
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: 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: 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: 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: 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: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 0.010 1.000 1 2017 2017
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: 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: 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: rs2286194
rs2286194
HGF
2 0.925 0.040 7 81726133 intron variant T/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs267597889
rs267597889
VSX1
1 1.000 0.040 20 25081705 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs3735520
rs3735520
HGF
4 0.851 0.040 7 81771623 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs45517234
rs45517234
TSC2
2 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs5749482
rs5749482
SYN3 ; LOC105373002
3 0.925 0.040 22 32663679 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
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