Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 24
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
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
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 17
rs1569686
DNMT3B
0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13
rs587781858
TP53
0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 12
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7
rs12325817
PEMT
0.807 0.320 17 17583205 intron variant C/A;G;T snv 7
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 5
rs1465444723
TCN2
0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 5