Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv 11
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8