Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
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
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
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
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv 11
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6