Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 16
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 16
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 15
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14