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: rs776969626
rs776969626
FANCA ; ZNF276
1 1.000 0.120 16 89739175 frameshift variant TG/- delins 0.700 1.000 5 2011 2016
dbSNP: rs1555545553
rs1555545553
FANCA
1 1.000 0.120 16 89765037 frameshift variant TG/- del 0.700 1.000 1 2016 2016
dbSNP: rs1555554788
rs1555554788
FANCA
1 1.000 0.120 16 89783096 frameshift variant TG/- delins 0.700 0
dbSNP: rs868273545
rs868273545
FANCA
1 1.000 0.120 16 89742803 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 3 1997 2016
dbSNP: rs747892390
rs747892390
FANCA ; ZNF276
2 0.925 0.120 16 89739218 frameshift variant TACATGTCCACAGC/- del 8.0E-06 0.700 1.000 2 1997 2008
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: rs1302083447
rs1302083447
FANCA
2 0.925 0.120 16 89764930 missense variant T/G snv 7.0E-06 0.700 1.000 4 2005 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs947311062
rs947311062
FANCA
1 1.000 0.120 16 89758707 splice acceptor variant T/G snv 1.4E-05 0.700 1.000 1 2005 2005
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: 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: rs17225943
rs17225943
FANCA
1 1.000 0.120 16 89803296 missense variant T/C snv 4.5E-03 1.8E-02 0.700 1.000 2 2008 2009
dbSNP: rs976556567
rs976556567
FANCA
1 1.000 0.120 16 89796020 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs11571707
rs11571707
BRCA2
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs397509403
rs397509403
ERCC4
4 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765576835
rs765576835
FANCD2
4 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs771218574
rs771218574
FANCL
2 0.925 0.120 2 58241304 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1555549535
rs1555549535
FANCA
1 1.000 0.120 16 89773386 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1567603987
rs1567603987
FANCA
1 1.000 0.120 16 89749899 missense variant T/C snv 0.700 0
dbSNP: rs1567618264
rs1567618264
FANCA
1 1.000 0.120 16 89770026 splice acceptor variant T/C snv 0.700 0
dbSNP: rs773906241
rs773906241
FANCA
2 0.925 0.120 16 89791538 splice acceptor variant T/C snv 1.6E-05 7.0E-06 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: rs915983602
rs915983602
FANCA ; ZNF276
1 1.000 0.120 16 89738710 splice acceptor variant T/A;C;G snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 3 2004 2016