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: 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: 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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs750871999
rs750871999
VRK2 ; FANCL
1 1.000 0.120 2 58160148 frameshift variant CT/-;CTCT delins 7.6E-05 0.700 1.000 4 2003 2014
dbSNP: rs747253294
rs747253294
VRK2 ; FANCL
2 0.925 0.120 2 58161533 inframe deletion ATA/- del 3.3E-04 0.700 1.000 3 2009 2016
dbSNP: rs1205006300
rs1205006300
FANCL
1 1.000 0.120 2 58229813 splice donor variant C/A snv 1.4E-05 0.700 1.000 2 2009 2013
dbSNP: rs144729980
rs144729980
FANCL
1 1.000 0.120 2 58226727 splice donor variant C/G;T snv 8.0E-06 0.700 1.000 2 2009 2013
dbSNP: rs1558727300
rs1558727300
VRK2 ; FANCL
1 1.000 0.120 2 58160103 splice region variant CTTAC/- delins 0.700 1.000 2 2009 2013
dbSNP: rs1558737575
rs1558737575
VRK2 ; FANCL
1 1.000 0.120 2 58163519 splice acceptor variant T/C snv 0.700 1.000 2 2009 2013
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: rs1553435610
rs1553435610
VRK2 ; FANCL
1 1.000 0.120 2 58163447 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs753105795
rs753105795
FANCL
1 1.000 0.120 2 58229819 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs761039364
rs761039364
FANCL
1 1.000 0.120 2 58241274 frameshift variant G/-;GG delins 8.0E-06 0.700 0
dbSNP: rs878855046
rs878855046
FANCL
1 1.000 0.120 2 58204163 frameshift variant ACCAGAAGCATCT/- 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: 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: 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: rs1553607671
rs1553607671
FANCD2
1 1.000 0.120 3 10039339 frameshift variant -/A delins 0.700 0
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
4 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 7 1993 2017
dbSNP: rs121917783
rs121917783
FANCC
6 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.710 1.000 4 1993 2012
dbSNP: rs121917784
rs121917784
FANCC
2 0.925 0.120 9 95249255 stop gained G/A snv 8.0E-06 0.700 1.000 4 1993 2015