Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7
rs9640699
MAGI2
0.925 0.120 7 78366115 intron variant A/C snv 0.58 2
rs711
ETS2
0.851 0.200 21 38823135 3 prime UTR variant A/C;G snv 4
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 5
rs2506004
RET
0.882 0.160 10 43086825 intron variant A/C;T snv 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1800797
IL6 ; IL6-AS1 ; STEAP1B
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1465444723
TCN2
0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 5
rs6962966
MAGI2
0.925 0.120 7 78174806 intron variant A/G snv 0.50 3
rs363504
GRIK1 ; BACH1
0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 3
rs461155
ETS2
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06 3
rs1457092
MYO9B
0.790 0.320 19 17193427 intron variant C/A snv 0.44 8
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 17
rs587781858
TP53
0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 12
rs12325817
PEMT
0.807 0.320 17 17583205 intron variant C/A;G;T snv 7
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs771748290
CBS
0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 3
rs2073601
SIM2
0.925 0.120 21 36745007 missense variant C/A;T snv 0.28; 2.4E-05 2
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79