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: 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: rs1324183
rs1324183 		2 1.000 0.040 9 13557492 intron variant A/C;T snv 0.030 1.000 3 2013 2018
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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2017 2020
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: 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: rs77542162
rs77542162
ABCA6
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs796053494
rs796053494
TSC2
1 1.000 0.040 16 2079422 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs6609533
rs6609533
SYN1 ; TIMP1 ; MIR4769
7 0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46 0.020 1.000 2 2017 2020
dbSNP: rs74315434
rs74315434
VSX1
2 0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs56157240
rs56157240
VSX1
1 1.000 0.040 20 25078745 synonymous variant A/T snv 0.26 0.30 0.010 1.000 1 2013 2013
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: rs7943316
rs7943316
CAT
2 0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57 0.010 1.000 1 2018 2018
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: 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: rs925447963
rs925447963
IPO5
1 1.000 0.040 13 97976710 missense variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6795735
rs6795735
ADAMTS9-AS2
7 0.882 0.120 3 64719689 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs74315433
rs74315433
VSX1
3 0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03 0.040 1.000 4 2002 2017
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: rs4894535
rs4894535
FNDC3B
2 1.000 0.040 3 172277815 intron variant C/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs267597889
rs267597889
VSX1
1 1.000 0.040 20 25081705 missense variant C/G snv 0.010 1.000 1 2017 2017
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: rs371541319
rs371541319
TSC2
1 1.000 0.040 16 2084494 missense variant C/G;T snv 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs45514100
rs45514100
TSC2
2 0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017