Disease: Neoplastic Syndromes, Hereditary
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins 5
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 4
rs730881864
NBN
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 4
rs767215758
NBN
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 4
rs767454740
NBN
0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 4