Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 21
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs63751241
ABCC6
0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 12
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs121908029
LDLR
0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 10
rs63749796
ABCC6
0.925 0.200 16 16159505 missense variant C/G snv 9
rs72664204
ABCC6
0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs72664207
ABCC6
0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 6
rs1799963
F2
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 6
rs754360599
ABCC6
0.925 0.200 16 16190334 missense variant G/A snv 2.0E-05 1.1E-04 5
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 5
rs1555517253
ABCC6
0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins 4
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 4
rs1554810066
ENG ; LOC105379841
0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 4
rs5030868
G6PD
0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 3
rs201118034
NOTCH3
0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 3
rs28933696
NOTCH3
0.882 0.160 19 15192134 missense variant G/A snv 3
rs75068032
NOTCH3
0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs63750671
APP
0.790 0.240 21 25891858 missense variant G/C snv 2
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 2