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: rs3735520
rs3735520
HGF
4 0.851 0.040 7 81771623 upstream gene variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17427817
rs17427817
HGF
2 0.925 0.040 7 81735119 intron variant C/A;G;T snv 0.020 1.000 2 2013 2018
dbSNP: rs12540393
rs12540393
HGF
2 0.925 0.040 7 81734871 intron variant C/T snv 0.77 0.010 1.000 1 2018 2018
dbSNP: rs5745718
rs5745718
HGF
3 0.882 0.040 7 81718232 intron variant T/G snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2018 2018
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.010 1.000 1 2008 2008
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.010 1.000 1 2008 2008
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs7494379
rs7494379
FERMT2
2 0.925 0.040 14 52944673 intron variant C/G;T snv 0.720 1.000 3 2016 2019
dbSNP: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.750 1.000 6 2013 2019
dbSNP: rs1258267
rs1258267
C10orf53
2 0.925 0.040 10 49687724 intron variant G/A snv 0.95 0.720 1.000 3 2016 2019
dbSNP: rs61732310
rs61732310
NTF4
3 0.882 0.040 19 49061735 missense variant G/A snv 4.5E-03 2.3E-03 0.010 1.000 1 2010 2010
dbSNP: rs11669977
rs11669977
NTF4
3 0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs983667
rs983667
SLC38A4
2 0.925 0.040 12 46769523 intron variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.020 1.000 2 2009 2020
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.050 0.800 5 2009 2020
dbSNP: rs2664538
rs2664538
MMP9
6 0.827 0.200 20 46011586 missense variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs3918249
rs3918249
MMP9
6 0.807 0.200 20 46009497 intron variant T/C snv 0.41 0.020 1.000 2 2011 2016
dbSNP: rs736893
rs736893
GLIS3
2 0.925 0.040 9 4217028 intron variant G/A;C snv 0.720 1.000 3 2016 2019
dbSNP: rs3816415
rs3816415
SFRP4 ; EPDR1
2 0.925 0.040 7 37948709 intron variant G/A snv 0.12 0.710 1.000 2 2016 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs2754511
rs2754511
BIRC6
3 0.882 0.040 2 32545090 intron variant A/T snv 0.24 0.010 1.000 1 2014 2014