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: rs1013278
rs1013278 		1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10152898
rs10152898 		1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1020338837
rs1020338837
AZI2
1 1.000 0.040 3 28340470 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1035650739
rs1035650739
NR1H2 ; NAPSA ; LOC105372437
1 1.000 0.040 19 50362252 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10505100
rs10505100
ANGPT1
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 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: rs11710139
rs11710139
LOC107986141 ; LOC107986142
1 1.000 0.040 3 150341555 non coding transcript exon variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs1210326005
rs1210326005
LOXL1 ; LOXL1-AS1
1 1.000 0.040 15 73927510 missense variant C/G;T snv 1.2E-05 0.010 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: rs1401907822
rs1401907822
B4GALT7
1 1.000 0.040 5 177608566 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1437969513
rs1437969513
FOXC1
1 1.000 0.040 6 1611203 missense variant C/T snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs1438561194
rs1438561194
WDR36
1 1.000 0.040 5 111092304 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs151326733
rs151326733
DERA
1 1.000 0.040 12 16036544 intron variant G/C snv 1.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs187112398
rs187112398
LOC101929408
1 1.000 0.040 15 75756813 intron variant C/T snv 7.6E-04 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: rs192917960
rs192917960
RBFOX1
1 1.000 0.040 16 5869654 intron variant C/A;T snv 0.700 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: rs2304719
rs2304719
LOXL1
1 1.000 0.040 15 73943159 intron variant C/T snv 0.30 0.700 1.000 1 2007 2007
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: rs2935057
rs2935057 		1 1.000 0.040 6 170139691 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3116139
rs3116139 		1 1.000 0.040 19 51375780 upstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs35703638
rs35703638
WDR36
1 1.000 0.040 5 111106140 missense variant G/A snv 8.3E-03 4.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs369115487
rs369115487
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38075373 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs4243042
rs4243042
LOXL1
1 1.000 0.040 15 73949283 intron variant A/T snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs504022
rs504022 		1 1.000 0.040 21 43311258 regulatory region variant T/G snv 0.91 0.700 1.000 1 2011 2011