Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1322648460
LOC100507144 ; CD44
0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs1037189404
MUC1
0.776 0.280 1 155187519 missense variant C/T snv 8
rs766333007
MUC1
0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 8
rs1561927
LINC00824
0.807 0.280 8 128555832 intron variant C/T snv 0.65 6
rs372883
BACH1
0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 5
rs762581936
MUC4
0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 5
rs7675998 0.827 0.360 4 163086668 intergenic variant A/G;T snv 5