Disease: Neoplastic Syndromes, Hereditary
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167776
MSH6 ; FBXO11
1.000 0.120 2 47791020 frameshift variant -/T delins 2
rs63750843
MSH2
0.925 0.240 2 47410235 stop gained C/G;T snv 1.6E-05 4
rs63751411
MSH2
0.925 0.240 2 47471041 stop gained G/A;T snv 4
rs587781742
RAD50
1.000 0.120 5 132594868 splice acceptor variant G/A;T snv 4.0E-06; 8.0E-06 2
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 4
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 4
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs146650273
PTEN
0.882 0.160 10 87961042 frameshift variant ACTT/- delins 4
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs398123318
PTEN
0.776 0.240 10 87925558 splice region variant AGTA/- delins 9
rs587782360
PTEN
0.851 0.280 10 87933162 missense variant A/G snv 3
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 6
rs786201995
KLLN ; PTEN
1.000 0.120 10 87864539 missense variant G/A;C;T snv 2
rs876660507
PTEN
1.000 0.120 10 87952134 missense variant G/T snv 2
rs137852761
MRE11
0.882 0.320 11 94447288 stop gained G/A snv 6.0E-05 7.0E-05 4
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 3
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 3
rs774440500
MRE11
1.000 0.120 11 94464115 frameshift variant -/T delins 4.0E-06; 1.6E-05 2
rs276174868
BRCA2
0.882 0.200 13 32340622 frameshift variant GCA/C delins 4.1E-06 4
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 7