Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 10
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 8
rs1474322770
NKX2-1 ; NKX2-1-AS1 ; SFTA3
0.827 0.240 14 36519251 missense variant G/A snv 5
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs1353175955
SPINT2
0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06 2