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: 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: 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: 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: 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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2017 2019
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.030 1.000 3 2011 2019
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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2018
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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2012 2014
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
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.020 1.000 2 2010 2017
dbSNP: rs3918188
rs3918188
NOS3
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.020 < 0.001 2 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs74315334
rs74315334
MYOC ; MYOCOS
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
dbSNP: rs74315336
rs74315336
MYOC ; MYOCOS
4 0.851 0.040 1 171636173 missense variant T/C snv 0.020 1.000 2 2003 2007