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: rs4840097
rs4840097 		1 1.000 0.040 6 99880322 intergenic variant C/T snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs13081855
rs13081855
COL8A1
1 1.000 0.040 3 99762695 intron variant G/T snv 8.0E-02 0.810 1.000 2 2013 2019
dbSNP: rs55975637
rs55975637
COL8A1
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.710 1.000 2 2011 2019
dbSNP: rs140647181
rs140647181
LOC105374007
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.710 1.000 2 2016 2018
dbSNP: rs1626340
rs1626340 		5 0.827 0.120 9 99161090 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs868
rs868
TGFBR1
4 0.851 0.160 9 99149374 3 prime UTR variant A/G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs334353
rs334353
TGFBR1
1 1.000 0.040 9 99146083 intron variant T/G snv 0.25 0.810 1.000 2 2013 2019
dbSNP: rs2872060
rs2872060
IGF1R
1 1.000 0.040 15 98956264 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2012 2012
dbSNP: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs6982567
rs6982567
C8orf37-AS1
3 0.882 0.040 8 95738053 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs757158
rs757158
PON1
5 0.851 0.240 7 95326216 upstream gene variant C/T snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 0.667 3 2004 2013
dbSNP: rs781071878
rs781071878
PON1
1 1.000 0.040 7 95311484 missense variant T/C snv 4.2E-04 1.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 0.667 3 2004 2013
dbSNP: rs771025483
rs771025483
PON1
1 1.000 0.040 7 95306310 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs768435443
rs768435443
ABCA4
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 1999 1999
dbSNP: rs1800549
rs1800549
ABCA4
2 0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03 0.010 1.000 1 1999 1999
dbSNP: rs752160946
rs752160946
ABCA4
1 1.000 0.040 1 94010868 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.060 0.833 6 1999 2019