Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8