Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
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
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15