Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs147680216
WNT10A
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 11
rs522616
MMP3
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 10
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv 7
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv 7
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv 6
rs7850258
PTCSC2
0.827 0.200 9 97786731 intron variant A/G snv 0.72 6
rs4752028
SHTN1
0.807 0.200 10 117075480 intron variant C/T snv 0.73 6
rs267606805
FGFR1
0.851 0.240 8 38414173 missense variant G/T snv 5
rs267606806
FGFR1
0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 5
rs1306416169
NSMF
0.851 0.280 9 137453808 missense variant C/T snv 5
rs1487309678
SEMA3A
0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 5
rs1269636220
WDR11
0.851 0.280 10 120865109 missense variant A/G snv 5
rs227731 0.882 0.120 17 56695877 intergenic variant T/A;G snv 4
rs6072081
LOC102724968
0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 4
rs7078160
SHTN1
0.851 0.120 10 117068049 intron variant G/A snv 0.19 4
rs8179096
TIMP2
0.851 0.200 17 78925567 upstream gene variant G/A;C snv 4