Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795388
PUF60 ; LOC107986985 ; NRBP2
0.882 0.080 8 143829279 splice donor variant C/G;T snv 3
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 5
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 26
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs137854855
LTBP2
0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 1
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
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
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
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