Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 16
rs746040003
RASA3
13 114018810 frameshift variant TCAG/- delins 1.6E-05 1
rs1566529937
RASA3
13 114052075 missense variant A/G snv 1
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv 4
rs776274768
ROS1
6 117342468 frameshift variant T/-;TT delins 1
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs984649575
CLIP1
12 122377616 stop gained G/A snv 2.1E-05 1
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv 4
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs1363884891
CEP76 ; PSMG2
18 12673471 missense variant C/T snv 7.0E-06 1
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62