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: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10491678
rs10491678 		1 1.000 0.040 9 29568688 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1051052
rs1051052
SERPINA1
1 1.000 0.040 14 94377595 3 prime UTR variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.900 1.000 15 2010 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2017 2017
dbSNP: rs10519203
rs10519203
HYKK
8 0.851 0.080 15 78521704 intron variant G/A snv 0.67 0.700 1.000 1 2015 2015
dbSNP: rs10519225
rs10519225
FGF7 ; FAM227B
1 1.000 0.040 15 49428581 intron variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1059823
rs1059823
SLC11A1
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.700 0
dbSNP: rs1062980
rs1062980
IREB2
8 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.020 1.000 2 2019 2019
dbSNP: rs10760580
rs10760580 		1 1.000 0.040 9 98899368 TF binding site variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10801558
rs10801558
CFH
2 1.000 0.040 1 196729914 intron variant T/G snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs10801559
rs10801559
CFH
2 1.000 0.040 1 196735074 intron variant G/A snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs1080879
rs1080879 		1 1.000 0.040 5 15054693 intergenic variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs10817688
rs10817688
DELEC1
2 1.000 0.040 9 114943689 intron variant A/G snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs10851906
rs10851906
IREB2
2 1.000 0.040 15 78482334 intron variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10866659
rs10866659
ADAM19
3 1.000 0.040 5 157510035 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10873142
rs10873142
HIF1A ; HIF1A-AS3
1 1.000 0.040 14 61736744 intron variant C/T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs10883944
rs10883944
STN1
2 1.000 0.040 10 103891899 intron variant G/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs10890311
rs10890311
RNF220
1 1.000 0.040 1 44602096 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019