Source: ALL
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: rs1060501887
rs1060501887
FANCA ; ZNF276
2 0.925 0.120 16 89738881 splice donor variant C/T snv 0.700 0
dbSNP: rs1188581065
rs1188581065
FANCA
1 1.000 0.120 16 89767140 splice donor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1216426444
rs1216426444
FANCA
1 1.000 0.120 16 89764940 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121907930
rs121907930
FANCA
1 1.000 0.120 16 89810716 stop gained C/T snv 0.700 0
dbSNP: rs1232171121
rs1232171121
FANCA
2 0.925 0.120 16 89814519 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1348367722
rs1348367722
FANCA
1 1.000 0.120 16 89799192 frameshift variant -/GACT delins 4.0E-06 0.700 0
dbSNP: rs1388128874
rs1388128874
FANCA
1 1.000 0.120 16 89803342 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs141422170
rs141422170
FANCA
1 1.000 0.120 16 89745049 missense variant G/C snv 3.3E-05 4.9E-05 0.700 0
dbSNP: rs142833057
rs142833057
FANCA
1 1.000 0.120 16 89746615 missense variant G/A;T snv 4.8E-05; 2.0E-05 0.700 0
dbSNP: rs1432988639
rs1432988639
FANCA ; ZNF276
2 0.925 0.120 16 89740803 splice donor variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs1458001028
rs1458001028
FANCA
1 1.000 0.120 16 89764888 splice donor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs147021911
rs147021911
FANCM
9 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 0
dbSNP: rs1477653630
rs1477653630
FANCA
1 1.000 0.120 16 89808368 splice acceptor variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs147945881
rs147945881
FANCA
1 1.000 0.120 16 89805393 splice acceptor variant C/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1483028018
rs1483028018
FANCA
1 1.000 0.120 16 89816536 splice donor variant C/G;T snv 1.1E-05 0.700 0
dbSNP: rs1485075318
rs1485075318
FANCA
1 1.000 0.120 16 89773385 splice acceptor variant C/A;T snv 6.4E-06 0.700 0
dbSNP: rs149551759
rs149551759
FANCA
1 1.000 0.120 16 89791422 stop gained G/A;C snv 3.8E-04 2.8E-04 0.700 0
dbSNP: rs149797103
rs149797103
FANCA
2 0.925 0.120 16 89744961 splice region variant G/A snv 9.7E-05 7.0E-05 0.700 0
dbSNP: rs149851163
rs149851163
FANCA ; ZNF276
1 1.000 0.120 16 89738943 missense variant C/T snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1555532943
rs1555532943
FANCA ; ZNF276
1 1.000 0.120 16 89738880 splice donor variant A/T snv 0.700 0
dbSNP: rs1555532944
rs1555532944
FANCA ; ZNF276
1 1.000 0.120 16 89738880 frameshift variant -/C delins 0.700 0
dbSNP: rs1555532946
rs1555532946
FANCA ; ZNF276
1 1.000 0.120 16 89738884 frameshift variant -/T delins 0.700 0
dbSNP: rs1555533693
rs1555533693
FANCA ; ZNF276
1 1.000 0.120 16 89739554 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555534060
rs1555534060
FANCA ; ZNF276
1 1.000 0.120 16 89740037 frameshift variant -/T delins 0.700 0
dbSNP: rs1555535472
rs1555535472
FANCA
1 1.000 0.120 16 89742820 frameshift variant G/- del 0.700 0