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: 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: rs1324183
rs1324183 		2 1.000 0.040 9 13557492 intron variant A/C;T snv 0.030 1.000 3 2013 2018
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: 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: 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: 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: 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: rs55703767
rs55703767
COL4A3 ; MFF-DT
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.020 1.000 2 2017 2020
dbSNP: rs6050307
rs6050307
VSX1
1 1.000 0.040 20 25081706 missense variant G/A;T snv 9.7E-06; 7.2E-03 0.020 1.000 2 2013 2015
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: 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: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 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: rs267597889
rs267597889
VSX1
1 1.000 0.040 20 25081705 missense variant C/G snv 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: rs6138482
rs6138482
VSX1
1 1.000 0.040 20 25078806 missense variant C/G;T snv 0.21 0.010 1.000 1 2010 2010