Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs1363884891
CEP76 ; PSMG2
18 12673471 missense variant C/T snv 7.0E-06 1
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1560739587
CLGN
4 140396131 missense variant T/C snv 1
rs1560743601
CLGN
4 140405975 missense variant G/T snv 1
rs201306926
CLGN
4 140399004 missense variant T/C snv 3.6E-05 7.0E-06 1
rs1557810606
CLIC4
1 24814131 missense variant C/T snv 1
rs984649575
CLIP1
12 122377616 stop gained G/A snv 2.1E-05 1
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 15
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 9
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv 4
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05 1
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24