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: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.760 1.000 16 2002 2017
dbSNP: rs75654767
rs75654767
OPTN
4 0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 0.740 0.867 15 2002 2014
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.100 0.917 12 2011 2019
dbSNP: rs1346865805
rs1346865805
OPTN
1 1.000 0.040 10 13110416 missense variant G/C snv 1.2E-05 0.700 1.000 11 2002 2014
dbSNP: rs200710076
rs200710076
OPTN
2 0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 0.700 1.000 11 2002 2014
dbSNP: rs373425395
rs373425395
OPTN
1 1.000 0.040 10 13132122 missense variant A/G snv 1.6E-05 7.7E-05 0.700 1.000 11 2002 2014
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.080 1.000 8 2011 2018
dbSNP: rs12994401
rs12994401
LOC730100
2 0.925 0.040 2 51845108 intron variant C/T snv 0.18 0.040 1.000 4 2009 2015
dbSNP: rs137853277
rs137853277
MYOC ; MYOCOS
3 0.925 0.040 1 171636382 missense variant G/A snv 7.0E-04 3.1E-04 0.040 1.000 4 2000 2012
dbSNP: rs74315337
rs74315337
MYOC
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.040 1.000 4 2000 2012
dbSNP: rs145285325
rs145285325
IL20RA
1 1.000 0.040 6 137008718 missense variant G/A snv 1.2E-05 1.4E-05 0.030 1.000 3 2014 2019
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.030 0.667 3 2001 2008
dbSNP: rs367923973
rs367923973
IL20RB ; IL20RB-AS1
1 1.000 0.040 3 136982255 missense variant C/T snv 4.0E-06 2.1E-05 0.030 1.000 3 2014 2019
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.030 1.000 3 2012 2015
dbSNP: rs74315332
rs74315332
MYOC ; MYOCOS
3 0.882 0.040 1 171636000 missense variant G/T snv 0.030 1.000 3 1998 2011
dbSNP: rs781662103
rs781662103
MMP1 ; WTAPP1
1 1.000 0.040 11 102797141 synonymous variant A/G snv 8.0E-06 1.4E-05 0.030 1.000 3 2011 2015
dbSNP: rs10202118
rs10202118
LOC730100
1 1.000 0.040 2 51723186 intron variant C/T snv 0.67 0.020 1.000 2 2012 2015
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.020 0.500 2 2017 2019
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.020 1.000 2 2015 2015
dbSNP: rs1279683
rs1279683
SLC23A2
3 1.000 0.040 20 5002446 intron variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs1533428
rs1533428
LOC730100
1 1.000 0.040 2 51732120 intron variant T/A;C snv 0.020 1.000 2 2012 2013
dbSNP: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.020 1.000 2 2009 2010
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.020 0.500 2 2011 2016
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.020 1.000 2 2000 2002
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.020 1.000 2 2000 2001