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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.040 0.500 4 2005 2018
dbSNP: rs113432289
rs113432289
RAPGEF5
1 1.000 0.040 7 22253498 intron variant A/C snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs16958477
rs16958477
LOXL1 ; LOXL1-AS1
2 0.925 0.040 15 73926125 5 prime UTR variant A/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs2024211
rs2024211 		1 1.000 0.040 7 116512971 downstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
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: rs28500712
rs28500712
AFAP1
2 1.000 0.040 4 7894486 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28795989
rs28795989
AFAP1
2 1.000 0.040 4 7889818 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs17752199
rs17752199 		3 0.925 0.040 6 51542050 upstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs190298731
rs190298731 		1 1.000 0.040 6 148738155 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2437812
rs2437812
LOC105376196
1 1.000 0.040 9 104930920 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs74315331
rs74315331
MYOC ; MYOCOS
3 0.882 0.040 1 171636010 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.050 1.000 5 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
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 2016 2017
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs10965219
rs10965219
CDKN2B-AS1
4 0.882 0.080 9 22053688 intron variant A/G snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs12699251
rs12699251
THSD7A
1 1.000 0.040 7 11639486 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs1579050
rs1579050
FMNL2
3 0.925 0.040 2 152508013 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs200208925
rs200208925
MYOC
2 0.925 0.040 1 171652454 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs2022945
rs2022945 		2 1.000 0.040 8 107238911 intergenic variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs2745572
rs2745572
LOC102723944
3 0.925 0.040 6 1548134 intergenic variant A/G snv 0.31 0.700 1.000 1 2018 2018