Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv 7
rs1565307564
TMEM258 ; MYRF
0.807 0.120 11 61783599 missense variant A/G snv 7
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 6
rs387906592
STAMBPL1 ; ACTA2
0.752 0.280 10 88941309 missense variant C/T snv 5
rs1567744830
HYDIN
0.925 0.120 16 70874437 stop gained C/A snv 3
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs2635727 1.000 0.080 6 50853227 downstream gene variant T/C;G snv 1
rs2817419
TFAP2B
0.925 0.160 6 50845193 3 prime UTR variant G/A snv 0.73 1
rs1232197674
TFAP2B
0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 1
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 6
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27