Disease: Cleft palate with cleft lip
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
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
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv 7
rs4752028
SHTN1
0.807 0.200 10 117075480 intron variant C/T snv 0.73 6
rs1269636220
WDR11
0.851 0.280 10 120865109 missense variant A/G snv 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
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
rs11696257
LOC102724968
0.882 0.240 20 40642176 regulatory region variant C/T snv 0.36 3
rs4791331
NTN1
0.925 0.120 17 9028765 intron variant C/T snv 0.53 3
rs17820943
LOC102724968
0.925 0.120 20 40639876 regulatory region variant C/T snv 0.36 2