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: 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: 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: 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: 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: 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
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: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs387907063
rs387907063
ZNF469 ; LOC112268182
2 0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05 0.010 1.000 1 2015 2015
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
dbSNP: rs45517234
rs45517234
TSC2
2 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017
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: 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: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.030 0.667 3 2008 2013
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: 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: 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: 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