Disease: Cleft Lip with or without Cleft Palate
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
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs1546124
CRISPLD2
0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 7
rs201002930
WNT10A
0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 6
rs4783099
CRISPLD2
0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 6
rs7552
CYRIA
0.882 0.120 2 16552660 splice region variant A/G snv 0.44 3
rs1258763 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 2