Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs11362
DEFB1
0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 13
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv 10
rs2235375
IRF6
0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 7
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614