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: 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: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.750 1.000 6 2013 2019
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: rs1043618
rs1043618
HSPA1A ; HSPA1L
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11024102
rs11024102
PLEKHA7
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.790 0.900 10 2013 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs1132776
rs1132776
ABCC5
2 0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1157699
rs1157699
CALCRL ; LOC105373786
2 0.925 0.040 2 187394177 intron variant C/G;T snv 0.010 1.000 1 2009 2009
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: rs11720822
rs11720822
PDIA5
3 0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs12138977
rs12138977
COL11A1
2 0.925 0.040 1 102927901 intron variant C/T snv 0.52 0.030 1.000 3 2014 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs12493550
rs12493550
HTR3D
2 0.925 0.040 3 184034985 intron variant G/A snv 6.3E-02 0.010 1.000 1 2017 2017
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: 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: rs1466441587
rs1466441587
VAV3
3 0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1676484
rs1676484
LOC107985096
2 0.925 0.040 1 102839465 intron variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1676486
rs1676486
COL11A1
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.020 1.000 2 2014 2019
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: 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: 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: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs183532
rs183532
MYOC
2 0.925 0.040 1 171640341 intron variant T/A;C snv 0.020 1.000 2 2015 2019
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: rs2156323
rs2156323
VAV2
3 0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 0.010 < 0.001 1 2010 2010