Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 31
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs768623239
GSTM1 ; GSTM2
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 25
rs156697
GSTO2
0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs1063192
CDKN2B ; CDKN2B-AS1
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs2250889
SLC12A5-AS1 ; MMP9
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 24
rs17855750
IL27
0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs2295080
MTOR
0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs1043210477
GPX1
0.701 0.520 3 49358250 missense variant G/A snv 19
rs2107425
MRPL23 ; H19
0.732 0.280 11 1999845 intron variant C/T snv 16
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16