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: rs10025152
rs10025152
2 4 186304150 intron variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs10029715
rs10029715
2 4 186301446 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1008728
rs1008728
2 4 186305519 intron variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs10090114
rs10090114
1 8 10147444 intron variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs1018827
rs1018827
F5
2 1 169544768 intron variant A/G snv 0.92 0.800 1.000 2 2011 2012
dbSNP: rs1021230
rs1021230
1 8 25928927 intron variant A/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.050 0.600 5 2003 2017
dbSNP: rs1042580
rs1042580
2 20 23046984 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10476160
rs10476160
1 5 175547573 regulatory region variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1048483
rs1048483
1 17 2063163 3 prime UTR variant C/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs10498632
rs10498632
2 14 91824400 intron variant A/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10504130
rs10504130
1 8 51844533 intron variant G/A snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs10516089
rs10516089
1 5 171724227 downstream gene variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs10737547
rs10737547
2 1 169506814 intergenic variant A/G snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs10746487
rs10746487
1 1 9278630 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10747514
rs10747514
1 20 35187566 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10886430
rs10886430
3 10 119250744 intron variant A/G snv 8.8E-02 0.700 1.000 2 2019 2019
dbSNP: rs10919507
rs10919507
1 1 170885468 intron variant C/T snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs11057270
rs11057270
1 12 123323526 intron variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs11132387
rs11132387
1 4 186297569 intron variant G/A;C snv 0.700 1.000 1 2011 2011