Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs35424364
CCDC162P
1.000 0.080 6 109322402 intron variant -/T delins 1
rs7030789
LPAR1
0.925 0.080 9 110973232 intron variant A/G snv 0.68 3
rs878855328
MTOR
0.882 0.120 1 11117039 missense variant C/T snv 4
rs4849682
THORLNC
1.000 0.080 2 118185307 intron variant C/T snv 0.20 1
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs5370
EDN1
0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 37
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs11610782 1.000 0.080 12 125711743 intergenic variant G/A snv 2.3E-02 1
rs4751440
NPS
0.925 0.120 10 127552592 missense variant G/A;C snv 1.6E-05; 9.4E-02 3
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs111942351 1.000 0.080 5 143693985 intron variant A/G snv 2.3E-02 1
rs2687855 1.000 0.080 3 145768292 regulatory region variant G/A snv 0.71 1
rs6888451
PPARGC1B
1.000 0.080 5 149744371 intron variant C/G;T snv 1
rs2033354
NBAS
1.000 0.080 2 15076492 intergenic variant T/C snv 0.30 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs13170573
SGCD
1.000 0.080 5 156327182 5 prime UTR variant C/A;G;T snv 1
rs1130864
CRP
0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 27
rs2794521
CRP
0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 15