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: 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: rs1057519378
rs1057519378
CARD10
1 1.000 0.040 22 37516037 missense variant C/A;T snv 4.4E-06; 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs139006752
rs139006752
CARD10
1 1.000 0.040 22 37508609 missense variant G/A snv 1.7E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs200148764
rs200148764
CARD10
1 1.000 0.040 22 37508568 missense variant C/T snv 2.7E-04 1.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs201794655
rs201794655
CARD10
1 1.000 0.040 22 37492794 missense variant G/A snv 2.1E-04 2.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs750643216
rs750643216
CARD10
1 1.000 0.040 22 37506365 missense variant G/A snv 3.3E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs137854858
rs137854858
LTBP2
1 1.000 0.040 14 74551266 missense variant C/A;T snv 1.3E-05; 2.1E-05 0.700 0
dbSNP: rs137854860
rs137854860
LTBP2
1 1.000 0.040 14 74502911 missense variant C/G;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs137854863
rs137854863
LTBP2
1 1.000 0.040 14 74505102 missense variant T/C snv 6.8E-05 7.0E-06 0.700 0
dbSNP: rs1553534421
rs1553534421
FASTKD1
2 0.925 0.040 2 169531449 missense variant A/T snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs878854408
rs878854408
MYOC ; MYOCOS
1 1.000 0.040 1 171636329 missense variant A/G snv 0.700 0
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: 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