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
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
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
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
dbSNP: rs1555517253
rs1555517253
4 0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins 0.700 0
dbSNP: rs1568362252
rs1568362252
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
5 0.882 0.160 19 15192134 missense variant G/A snv 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63751241
rs63751241
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs72664204
rs72664204
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs72664207
rs72664207
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
5 0.925 0.200 16 16190334 missense variant G/A snv 2.0E-05 1.1E-04 0.700 0
dbSNP: rs1255283120
rs1255283120
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs28933698
rs28933698
4 0.882 0.160 19 15189004 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs63750671
rs63750671
APP
8 0.790 0.240 21 25891858 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1555729486
rs1555729486
2 1.000 19 15192118 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2004 2004
dbSNP: rs752907384
rs752907384
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs773539041
rs773539041
2 1.000 19 15192289 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2005