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: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1565400045
rs1565400045
ATM
1 11 108259050 frameshift variant A/- del 0.700 0
dbSNP: rs1565486028
rs1565486028
ATM
1 11 108307917 frameshift variant -/G delins 0.700 0
dbSNP: rs1567489890
rs1567489890
3 1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs773920155
rs773920155
3 0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057519992
rs1057519992
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.020 1.000 2 1991 2008
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs121908859
rs121908859
2 1.000 0.040 14 81143914 missense variant A/G snv 0.010 1.000 1 1993 1993
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.780 1.000 9 1995 2020
dbSNP: rs1801270
rs1801270
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.030 1.000 3 1995 2016
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs139085046
rs139085046
1 7 141972869 missense variant C/T snv 1.6E-04 1.7E-04 0.010 1.000 1 1995 1995
dbSNP: rs147506929
rs147506929
NF2
1 22 29678208 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs200246711
rs200246711
1 2 219216057 missense variant C/A;T snv 2.0E-04 0.010 1.000 1 1995 1995
dbSNP: rs536976542
rs536976542
1 20 58854270 missense variant G/A;T snv 8.2E-06 0.010 1.000 1 1995 1995
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs770251749
rs770251749
2 1.000 0.120 6 54121506 missense variant A/C snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs79781594
rs79781594
RET
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 1995 1995
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.020 0.500 2 1997 2004
dbSNP: rs2227564
rs2227564
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 1997 1997
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.100 0.846 13 1998 2014
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.917 12 1998 2013
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.070 1.000 7 1998 2019