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: rs765576835
rs765576835
FANCD2
4 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs943009372
rs943009372
FANCD2
1 1.000 0.120 3 10036340 splice donor variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2007 2013
dbSNP: rs1553607671
rs1553607671
FANCD2
1 1.000 0.120 3 10039339 frameshift variant -/A delins 0.700 0
dbSNP: rs121917787
rs121917787
FANCD2
2 0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2001 2007
dbSNP: rs766567785
rs766567785
FANCD2
1 1.000 0.120 3 10067267 missense variant G/A snv 1.3E-04 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs1289665675
rs1289665675
FANCD2
1 1.000 0.120 3 10067310 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2018 2018
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: 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: rs147105770
rs147105770
ERCC4
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs879254329
rs879254329
FANCB
1 1.000 0.120 X 14865276 missense variant A/G snv 0.700 0
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: rs587778340
rs587778340
FANCF
2 0.925 0.120 11 22625326 frameshift variant AG/- delins 1.3E-04 0.700 0
dbSNP: rs730880277
rs730880277
FANCF ; GAS2
2 0.925 0.120 11 22625559 frameshift variant AGTTCGCTAATCCCGGAACTGGA/- delins 1.4E-05 0.700 0
dbSNP: rs745495865
rs745495865
FANCF ; GAS2
1 1.000 0.120 11 22625809 start lost A/C;G snv 8.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 12 2000 2016
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: 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: rs786202344
rs786202344
BRCA2
1 1.000 0.120 13 32357926 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs28897746
rs28897746
BRCA2
2 1.000 0.120 13 32363259 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs80359065
rs80359065
BRCA2
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.010 1.000 1 2003 2003
dbSNP: rs80359130
rs80359130
BRCA2
5 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 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