Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085308042
rs1085308042
PTEN
4 0.882 0.120 10 87894076 missense variant G/A snv 0.700 0
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
5 0.882 0.120 10 87864504 missense variant A/C snv 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
6 0.851 0.320 10 87933175 stop gained T/G snv 0.700 0
dbSNP: rs1085308049
rs1085308049
PTEN
3 0.925 0.080 10 87957885 stop gained A/T snv 0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
dbSNP: rs1085308053
rs1085308053
PTEN
5 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs1085308055
rs1085308055
PTEN
4 0.882 0.120 10 87952240 frameshift variant TCAGT/- delins 0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 0
dbSNP: rs1131692245
rs1131692245
NPHS1
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0