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: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1554810066
rs1554810066
ENG ; LOC105379841
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
dbSNP: rs1555517253
rs1555517253
ABCC6
4 0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins 0.700 0
dbSNP: rs1568362252
rs1568362252
NOTCH3
1 19 15192490 missense variant C/T snv 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs28933696
rs28933696
NOTCH3
5 0.882 0.160 19 15192134 missense variant G/A snv 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63751241
rs63751241
ABCC6
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs72664204
rs72664204
ABCC6
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs72664207
rs72664207
ABCC6
6 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs754360599
rs754360599
ABCC6
5 0.925 0.200 16 16190334 missense variant G/A snv 2.0E-05 1.1E-04 0.700 0
dbSNP: rs12646447
rs12646447 		1 4 110778170 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs13407662
rs13407662
ASB3
1 2 53555422 intron variant C/T snv 4.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs161802
rs161802
PARK7
1 1 7982766 intron variant G/T snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.800 1.000 1 2014 2014
dbSNP: rs2238151
rs2238151
ALDH2
3 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs225132
rs225132 		1 1 8035440 intron variant T/G snv 0.27 0.800 1.000 1 2014 2014
dbSNP: rs6843082
rs6843082 		3 0.925 0.120 4 110796911 non coding transcript exon variant G/A snv 0.71 0.800 1.000 1 2012 2012
dbSNP: rs7506045
rs7506045
IMPA2
2 1.000 0.080 18 11987273 intron variant C/T snv 0.10 0.800 1.000 1 2007 2007
dbSNP: rs879324
rs879324
ZFHX3
2 1.000 0.080 16 73034779 intron variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs4471613
rs4471613
ALDH1A2
3 1.000 0.080 15 58259495 intron variant G/A snv 4.3E-02 0.710 1.000 1 2015 2015
dbSNP: rs720470
rs720470
LOC105372798
1 21 37561586 intergenic variant T/C snv 0.28 0.710 1.000 1 2018 2018
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.710 1.000 1 2010 2010
dbSNP: rs10123021
rs10123021 		1 9 100689786 regulatory region variant G/A;T snv 0.700 1.000 1 2013 2013