Source: CLINVAR ×
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: rs35628
rs35628
ABCC1
1 1.000 0.080 16 16077249 intron variant A/G snv 0.13 0.700 0
dbSNP: rs3888565
rs3888565
ABCC1
1 1.000 0.080 16 16089188 intron variant G/A snv 0.25 0.700 0
dbSNP: rs4148353
rs4148353
ABCC1
1 1.000 0.080 16 16077291 intron variant G/A;T snv 0.700 0
dbSNP: rs1801155
rs1801155
APC
10 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.720 1.000 0 1998 1999
dbSNP: rs1131691164
rs1131691164
ATM
3 0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05 0.700 0
dbSNP: rs1137887
rs1137887
ATM
3 0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05 0.700 0
dbSNP: rs1185204988
rs1185204988
ATM
2 0.925 0.280 11 108248987 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555069815
rs1555069815
ATM
3 0.925 0.280 11 108249082 frameshift variant T/- del 0.700 0
dbSNP: rs1555070980
rs1555070980
ATM
3 0.925 0.280 11 108250907 stop gained T/G snv 0.700 0
dbSNP: rs1555093684
rs1555093684
ATM
2 0.925 0.280 11 108284414 frameshift variant GA/- delins 0.700 0
dbSNP: rs55861249
rs55861249
ATM
3 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 0
dbSNP: rs587779817
rs587779817
ATM
3 0.925 0.280 11 108251026 frameshift variant GA/- delins 0.700 0
dbSNP: rs587779833
rs587779833
ATM
3 0.925 0.280 11 108279578 stop gained C/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587781558
rs587781558
ATM
3 0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs587781653
rs587781653
ATM
3 0.925 0.280 11 108289737 frameshift variant G/- delins 0.700 0
dbSNP: rs730881336
rs730881336
ATM
3 0.925 0.280 11 108244867 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs730881346
rs730881346
ATM
3 0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs730881369
rs730881369
ATM
3 0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs748840480
rs748840480
ATM
3 0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs749036865
rs749036865
ATM
3 0.925 0.280 11 108250834 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs758081262
rs758081262
ATM
2 0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs768362387
rs768362387
ATM
3 0.851 0.360 11 108253846 stop gained C/A snv 0.700 0
dbSNP: rs780619951
rs780619951
ATM
3 0.925 0.280 11 108259022 stop gained C/G;T snv 4.0E-05 0.700 0
dbSNP: rs786202743
rs786202743
ATM
3 0.925 0.280 11 108254013 stop gained C/T snv 0.700 0
dbSNP: rs869312754
rs869312754
ATM
3 0.925 0.120 11 108227594 splice acceptor variant G/T snv 0.700 0