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: 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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 < 0.001 1 2018 2018
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: rs17233497
rs17233497
FANCA
2 0.925 0.120 16 89748744 missense variant G/A snv 5.1E-02 5.2E-02 0.710 1.000 3 2008 2013
dbSNP: rs17232246
rs17232246
FANCA
1 1.000 0.120 16 89808348 missense variant G/A snv 1.2E-02 4.9E-02 0.700 0
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: 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: rs17233141
rs17233141
FANCA
1 1.000 0.120 16 89767168 missense variant G/C snv 1.0E-02 6.1E-03 0.700 0
dbSNP: rs17227396
rs17227396
FANCA ; ZNF276
1 1.000 0.120 16 89739264 missense variant C/T snv 4.8E-03 1.4E-03 0.700 1.000 2 2008 2009
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: rs121917783
rs121917783
FANCC
6 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs200755477
rs200755477
EFCAB6 ; EFCAB6-AS1
3 0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs397507553
rs397507553
FANCA ; ZNF276
2 0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-05 0.700 1.000 3 2008 2014
dbSNP: rs753980264
rs753980264
FANCA
1 1.000 0.120 16 89778948 stop gained G/A;C snv 8.0E-06 8.4E-05 0.700 1.000 4 1999 2015
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: 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: rs397507552
rs397507552
FANCA
2 0.925 0.120 16 89792034 frameshift variant CAAC/- delins 7.2E-05 5.6E-05 0.700 1.000 2 2011 2014
dbSNP: rs148100796
rs148100796
FANCA
2 0.925 0.120 16 89799197 stop gained C/A snv 6.0E-05 5.6E-05 0.700 1.000 1 1999 1999
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: rs555449842
rs555449842
FANCA
2 0.925 0.120 16 89775816 splice acceptor variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 1 2009 2009
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: rs761341952
rs761341952
FANCA
2 0.925 0.120 16 89816551 stop gained C/T snv 1.2E-04 4.2E-05 0.700 1.000 6 1997 2014
dbSNP: rs769862233
rs769862233
FANCA
1 1.000 0.120 16 89746891 splice acceptor variant C/T snv 8.6E-05 4.2E-05 0.700 0
dbSNP: rs772359099
rs772359099
FANCA
2 0.925 0.120 16 89795922 frameshift variant GAGT/- delins 3.6E-05 3.5E-05 0.700 1.000 5 1997 2014