Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 6
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs1064795388
PUF60 ; LOC107986985 ; NRBP2
0.882 0.080 8 143829279 splice donor variant C/G;T snv 3
rs137854855
LTBP2
0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 1