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: 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: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.750 1.000 6 2013 2019
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: 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: rs736893
rs736893
GLIS3
2 0.925 0.040 9 4217028 intron variant G/A;C snv 0.720 1.000 3 2016 2019
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: 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: rs183532
rs183532
MYOC
2 0.925 0.040 1 171640341 intron variant T/A;C snv 0.020 1.000 2 2015 2019
dbSNP: rs235875
rs235875
MYOC
2 0.925 0.040 1 171644616 intron variant C/T snv 0.16 0.020 1.000 2 2015 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: 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: 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: 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: 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: rs1676484
rs1676484
LOC107985096
2 0.925 0.040 1 102839465 intron variant A/C snv 0.010 1.000 1 2019 2019
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: 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
dbSNP: rs216489
rs216489
PLEKHA7
2 0.925 0.040 11 16802189 intron variant G/A;T snv 0.010 1.000 1 2014 2014
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: rs235913
rs235913
MYOC
2 0.925 0.040 1 171649516 intron variant T/C;G snv 0.010 1.000 1 2015 2015
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
dbSNP: rs2801219
rs2801219
VAV3
3 0.882 0.040 1 107959790 intron variant C/A snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs3788317
rs3788317
TXNRD2
4 0.851 0.040 22 19902302 intron variant G/T snv 0.30 0.010 < 0.001 1 2013 2013