Disease: Cleft upper lip
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12229892
PTPN11
0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 2
rs12375983 0.925 0.120 9 89595154 intron variant G/A snv 0.13 2
rs1243572 0.925 0.120 14 94913162 intergenic variant T/C snv 0.78 2
rs12681366
FSBP ; RAD54B
0.925 0.120 8 94389037 intron variant T/C snv 0.35 2
rs13041247
LOC102724968
0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 2
rs13317
FGFR1
0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23 2
rs1487022
VPS13B
0.925 0.120 8 99517598 intron variant G/T snv 0.17 2
rs1588366
TANC2
0.925 0.120 17 62999067 regulatory region variant A/G snv 0.23 2
rs1688766
FILIP1L ; CMSS1
0.925 0.120 3 99929006 intron variant G/A snv 0.18 2
rs1838105
GOSR2 ; LRRC37A2
0.925 0.120 17 46931569 non coding transcript exon variant A/G snv 0.63 2
rs1873147 0.925 0.120 15 63020433 regulatory region variant G/A snv 0.66 2
rs1878918
NRG1
0.925 0.120 8 32476054 intron variant G/A;C snv 2
rs1907989 0.925 0.120 4 4817198 upstream gene variant A/G snv 0.36 2
rs2006771
SFI1
0.925 0.120 22 31602626 missense variant G/A snv 0.41 0.44 2
rs2064163 0.925 0.120 1 209875474 regulatory region variant G/T snv 0.30 2
rs2073764
GNB1L
0.925 0.120 22 19811887 intron variant C/T snv 6.0E-03 2
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 2
rs2283487 0.925 0.120 16 3919885 intergenic variant A/C;G snv 2
rs2289187
UBL7
0.925 0.120 15 74452058 intron variant C/T snv 0.24 2
rs2304269
TMEM19
0.925 0.120 12 71686492 5 prime UTR variant T/C snv 6.5E-02 2
rs2363632 0.925 0.120 12 52963551 intergenic variant T/G snv 7.7E-02 2
rs2872615 0.925 0.120 17 9011376 intergenic variant T/C snv 0.23 2
rs287982 0.925 0.120 2 9832313 regulatory region variant C/T snv 0.70 2
rs3741442
KRT18
0.925 0.120 12 52952966 upstream gene variant C/T snv 7.6E-02 2
rs3746101
MKNK2
0.925 0.120 19 2050824 missense variant G/T snv 2.8E-05; 9.5E-02 7.1E-02 2