Disease: Atrial Septal Defects
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10