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: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2018
dbSNP: rs751497460
rs751497460
CD48
1 1.000 0.040 1 160681173 frameshift variant -/T ins 5.6E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs576499843
rs576499843
VAV3
3 0.882 0.040 1 107617607 missense variant A/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7098387
rs7098387 		1 1.000 0.040 10 20334544 regulatory region variant A/C;T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs74315331
rs74315331
MYOC ; MYOCOS
3 0.882 0.040 1 171636010 missense variant A/C;T snv 0.010 1.000 1 2004 2004
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: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.030 1.000 3 2011 2019
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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2010 2013
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.020 1.000 2 2010 2017
dbSNP: rs74315338
rs74315338
MYOC ; MYOCOS
3 0.882 0.040 1 171636143 missense variant A/G snv 0.020 1.000 2 2003 2018
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.020 1.000 2 2009 2011
dbSNP: rs11669977
rs11669977
NTF4
3 0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1 1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1428758
rs1428758
CNTNAP4
1 1.000 0.040 16 76307609 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1463461589
rs1463461589
NTF4
1 1.000 0.040 19 49061660 missense variant A/G snv 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2015 2015