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: rs773159223
rs773159223
FANCA
1 1.000 0.120 16 89815912 stop gained G/A snv 1.6E-05 0.700 1.000 1 1999 1999
dbSNP: rs774026652
rs774026652
FANCA
1 1.000 0.120 16 89791495 stop gained G/A snv 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs80359183
rs80359183
BRCA2
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs121907930
rs121907930
FANCA
1 1.000 0.120 16 89810716 stop gained C/T snv 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: 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: rs1555547474
rs1555547474
FANCA
1 1.000 0.120 16 89769943 stop gained C/A snv 0.700 0
dbSNP: rs539460201
rs539460201
FANCA
1 1.000 0.120 16 89810802 stop gained T/A;G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs757504102
rs757504102
FANCA
1 1.000 0.120 16 89778980 stop gained ACGTAG/- del 0.700 0
dbSNP: rs940187828
rs940187828
FANCA ; ZNF276
1 1.000 0.120 16 89738895 stop gained G/C snv 4.0E-06 0.700 0
dbSNP: rs574034197
rs574034197
FANCA
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.800 1.000 17 1997 2015
dbSNP: rs753063086
rs753063086
FANCA
2 0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.800 1.000 17 1997 2017
dbSNP: rs148473140
rs148473140
FANCA
2 0.925 0.120 16 89791459 missense variant G/A snv 8.0E-06 2.1E-05 0.800 1.000 16 1997 2016
dbSNP: rs149277003
rs149277003
FANCA
2 0.925 0.120 16 89746890 missense variant T/C snv 2.5E-05 5.6E-05 0.800 1.000 14 1997 2012
dbSNP: rs780825099
rs780825099
FANCA
2 0.925 0.120 16 89765062 missense variant T/G snv 1.2E-05 7.0E-06 0.800 1.000 13 1997 2018
dbSNP: rs878853665
rs878853665
FANCA ; ZNF276
1 1.000 0.120 16 89740024 missense variant A/G snv 0.700 1.000 11 1997 2009
dbSNP: rs1429943036
rs1429943036
FANCA
1 1.000 0.120 16 89749805 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs1555533300
rs1555533300
FANCA ; ZNF276
1 1.000 0.120 16 89739220 missense variant C/T snv 0.700 1.000 9 1997 2008
dbSNP: rs1555533313
rs1555533313
FANCA ; ZNF276
1 1.000 0.120 16 89739225 missense variant C/A snv 0.700 1.000 9 1997 2008
dbSNP: rs1555534579
rs1555534579
FANCA ; ZNF276
1 1.000 0.120 16 89740848 missense variant A/G snv 0.700 1.000 9 1997 2008
dbSNP: rs374030577
rs374030577
FANCA
1 1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs76275444
rs76275444
FANCA
1 1.000 0.120 16 89816592 missense variant G/A;C snv 5.0E-03 0.700 1.000 9 1997 2008
dbSNP: rs755546887
rs755546887
FANCA
2 0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs755922289
rs755922289
FANCA
2 0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-05 0.700 1.000 6 2000 2015