Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06 1
rs1560739587
CLGN
4 140396131 missense variant T/C snv 1
rs1562137453
ADGRB3
6 69049307 missense variant T/C snv 1
rs1562308994
TSTD3 ; USP45
6 99446205 missense variant T/C snv 1
rs201306926
CLGN
4 140399004 missense variant T/C snv 3.6E-05 7.0E-06 1
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05 1
rs759951698
SLC7A8
14 23139485 missense variant T/C snv 8.0E-06 7.0E-06 1
rs773956500
LAMA5
20 62322722 missense variant T/C snv 4.3E-05 2.9E-05 1
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs747762087
PDZRN3
3 73384465 missense variant T/A;G snv 7.0E-06 1
rs757167361
DPH1
0.925 17 2030171 missense variant T/A;C;G snv 4
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
rs1158061584
N4BP2L2
13 32443086 frameshift variant T/-;TT delins 1
rs776274768
ROS1
6 117342468 frameshift variant T/-;TT delins 1
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs1565191262
FAM111B
1.000 0.080 11 59125559 frameshift variant T/- del 4
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11