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: rs10038095
rs10038095
3 5 75341886 intron variant A/T snv 0.38 0.800 1.000 1 2012 2019
dbSNP: rs10045497
rs10045497
1 5 75340659 intron variant C/A snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs10102164
rs10102164
RP1
3 8 54509054 upstream gene variant G/A snv 0.19 0.800 1.000 1 2013 2018
dbSNP: rs10402271
rs10402271
6 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.800 1.000 1 2012 2018
dbSNP: rs1041968
rs1041968
4 2 21009932 synonymous variant G/A snv 0.39 0.38 0.800 1.000 1 2012 2019
dbSNP: rs1042034
rs1042034
7 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 1 2012 2018
dbSNP: rs10455872
rs10455872
LPA
6 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.800 1.000 1 2012 2019
dbSNP: rs10490626
rs10490626
3 2 118078265 intergenic variant G/A snv 5.2E-02 0.800 1.000 1 2013 2018
dbSNP: rs1077514
rs1077514
1 1 23439740 intron variant C/T snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs10808546
rs10808546
4 8 125483576 intron variant C/T snv 0.39 0.800 1.000 1 2012 2018
dbSNP: rs10903129
rs10903129
2 1 25442446 intron variant A/G snv 0.58 0.800 1.000 1 2009 2018
dbSNP: rs10904908
rs10904908
1 10 17218291 intron variant A/G snv 0.41 0.800 1.000 1 2013 2017
dbSNP: rs11207995
rs11207995
2 1 62583880 intron variant A/C;G snv 0.800 1.000 1 2013 2019
dbSNP: rs11591147
rs11591147
4 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 1 2012 2019
dbSNP: rs11603023
rs11603023
2 0.925 0.120 11 118615352 intron variant T/C snv 0.57 0.800 1.000 1 2013 2013
dbSNP: rs1160985
rs1160985
5 1.000 0.080 19 44900155 intron variant C/T snv 0.52 0.800 1.000 1 2013 2019
dbSNP: rs116435220
rs116435220
1 1 46425014 regulatory region variant C/T snv 8.9E-03 0.800 1.000 1 2013 2013
dbSNP: rs1167998
rs1167998
5 1 62465961 intron variant C/A snv 0.57 0.800 1.000 1 2012 2019
dbSNP: rs11694172
rs11694172
1 2 202667581 intron variant A/G snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs11806638
rs11806638
3 1 55052487 intron variant C/A;G snv 0.800 1.000 1 2012 2019
dbSNP: rs118146573
rs118146573
1 16 56967026 intron variant G/A snv 9.4E-02 0.800 1.000 1 2014 2018
dbSNP: rs12130333
rs12130333
2 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.800 1.000 1 2012 2019
dbSNP: rs12272004
rs12272004
3 1.000 0.040 11 116733008 TF binding site variant C/A snv 9.8E-02 0.800 1.000 1 2009 2009
dbSNP: rs12654264
rs12654264
5 0.925 0.120 5 75352778 intron variant A/T snv 0.38 0.800 1.000 1 2012 2019
dbSNP: rs12686004
rs12686004
3 1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02 0.800 1.000 1 2012 2018