Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 1
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv 3
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 2
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 2
rs387906772
GATA4
1.000 0.080 8 11755064 missense variant A/G;T snv 1
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 1
rs1555628863
GATA6
0.925 0.080 18 22172215 frameshift variant G/- delins 3
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 11
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 4