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: rs1131692237
rs1131692237
2 1.000 0.040 17 39725161 missense variant T/G snv 0.700 0
dbSNP: rs1131692238
rs1131692238
2 0.925 0.040 17 39509731 missense variant G/T snv 0.700 0
dbSNP: rs1193127627
rs1193127627
1 1.000 0.040 9 74842272 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1216460058
rs1216460058
1 1.000 0.040 7 6046097 missense variant C/T snv 0.700 0
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 0
dbSNP: rs121913469
rs121913469
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 0
dbSNP: rs1388363572
rs1388363572
1 1.000 0.040 15 88135386 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1390558952
rs1390558952
1 1.000 0.040 6 149683082 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1423790481
rs1423790481
1 1.000 0.040 9 22008805 missense variant G/A snv 4.5E-06 0.700 0
dbSNP: rs1554350382
rs1554350382
1 1.000 0.040 7 55181318 protein altering variant -/GTC ins 0.700 0
dbSNP: rs186305118
rs186305118
1 1.000 0.040 17 64055926 missense variant A/C snv 1.0E-02; 6.8E-06 1.0E-02 0.700 0
dbSNP: rs199614818
rs199614818
1 1.000 0.040 4 65490529 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs200567905
rs200567905
1 1.000 0.040 22 26027116 missense variant G/A snv 1.9E-04 1.6E-04 0.700 0
dbSNP: rs397516975
rs397516975
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0
dbSNP: rs587776805
rs587776805
1 1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins 0.700 0
dbSNP: rs745775382
rs745775382
1 1.000 0.040 11 108333954 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs758032015
rs758032015
1 1.000 0.040 8 47943872 missense variant C/A snv 0.700 0
dbSNP: rs758691941
rs758691941
1 1.000 0.040 7 151077331 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.700 0
dbSNP: rs778066815
rs778066815
1 1.000 0.040 8 86064182 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs879254046
rs879254046
ATM
2 0.925 0.240 11 108267246 stop gained G/A;C;T snv 0.700 0
dbSNP: rs879254065
rs879254065
1 1.000 0.040 11 108345849 missense variant C/G snv 0.700 0
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2002 2012
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 1.000 3 2002 2008
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 0.500 2 2002 2006
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 0.500 2 2002 2006