Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 17
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs1568359734
ASXL3
0.827 0.240 18 33738903 frameshift variant A/- delins 8
rs1057519370
NF1
0.882 0.120 17 31159091 splice donor variant G/- delins 7
rs863224493
NF1
0.925 0.120 17 31352281 stop gained G/A snv 7
rs1057518842
NF1
1.000 0.080 17 31227215 splice region variant T/G snv 5
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 5