Disease: Cleft upper lip
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 2
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 14
rs12229892
PTPN11
0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 2
rs13041247
LOC102724968
0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 2
rs6072081
LOC102724968
0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 3
rs7078160
SHTN1
0.851 0.120 10 117068049 intron variant G/A snv 0.19 2
rs8049367 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 2
rs10886040
SHTN1
0.882 0.120 10 117086783 intron variant C/G snv 0.20 3
rs11841646 0.882 0.120 13 80105167 intergenic variant T/A;G snv 0.42 3
rs12543318 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 3
rs12944377
NTN1
0.882 0.120 17 9044391 intron variant T/C snv 0.36 3
rs13317
FGFR1
0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23 2
rs227731 0.882 0.120 17 56695877 intergenic variant T/A;G snv 3
rs4791774
NTN1
0.882 0.240 17 9028802 intron variant A/C;G snv 2
rs481931
ABCA4
0.882 0.120 1 94104460 intron variant G/T snv 0.32 2
rs6029258 0.882 0.120 20 40656135 intergenic variant G/A snv 0.58 3
rs66515264
ABCA4
0.882 0.120 1 94092554 intron variant G/A;T snv 3
rs705704
RPS26 ; LOC105369780
0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26 4
rs72728734
CCDC26
0.882 0.120 8 128921474 intron variant A/G snv 0.13 3
rs7552
CYRIA
0.882 0.120 2 16552660 splice region variant A/G snv 0.44 2
rs7566780 0.882 0.120 2 16548089 intron variant A/C;G snv 3
rs76479869
TP63
0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02 3
rs9439713
PAX7
0.882 0.120 1 18646282 intron variant G/A snv 0.31 3
rs9439714
PAX7
0.882 0.120 1 18649995 intron variant T/C snv 0.28 3
rs10133673
SLC25A21
0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02 2