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: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 0.964 28 1997 2019
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2005 2016
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: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.070 0.857 7 2008 2015
dbSNP: rs33912345
rs33912345
SIX6 ; C14orf39
7 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.070 1.000 7 2014 2019
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 0.070 0.571 7 2008 2015
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.060 0.833 6 2008 2015
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.060 1.000 6 2003 2012
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.050 0.800 5 2011 2017
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2010
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.050 1.000 5 2002 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2009 2019
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: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.040 1.000 4 2012 2020
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.750 4 2016 2020
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: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.030 1.000 3 2012 2014
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