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: rs745882980
rs745882980
FANCA ; ZNF276
2 0.925 0.120 16 89738944 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs1173704265
rs1173704265
FANCA
1 1.000 0.120 16 89767208 missense variant A/G snv 7.0E-06 0.700 1.000 4 1997 2012
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: rs1490352414
rs1490352414
FANCA
1 1.000 0.120 16 89770179 missense variant A/G snv 9.5E-06 0.700 1.000 4 2005 2012
dbSNP: rs182657062
rs182657062
FANCA ; ZNF276
1 1.000 0.120 16 89739517 missense variant G/A snv 1.3E-05 1.4E-05 0.700 1.000 4 1999 2013
dbSNP: rs762526878
rs762526878
FANCA
1 1.000 0.120 16 89771778 missense variant A/G snv 8.0E-06 0.700 1.000 4 2005 2014
dbSNP: rs1555538571
rs1555538571
FANCA
1 1.000 0.120 16 89749730 missense variant C/T snv 0.700 1.000 3 2005 2014
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: rs753700179
rs753700179
FANCA ; ZNF276
1 1.000 0.120 16 89740015 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2009 2018
dbSNP: rs104886458
rs104886458
FANCC ; AOPEP
3 0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05 0.020 1.000 2 1993 1996
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: 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: rs1055368753
rs1055368753
BRCA1
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
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: 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: rs139235751
rs139235751
FANCA
2 0.925 0.120 16 89775768 missense variant C/G;T snv 2.4E-03; 2.0E-05 0.010 1.000 1 2013 2013
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: rs1555524842
rs1555524842
RFWD3
3 0.882 0.120 16 74628505 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1567621042
rs1567621042
FANCA
1 1.000 0.120 16 89773306 missense variant A/G snv 0.700 1.000 1 2008 2008
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: 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: rs267606997
rs267606997
RAD51C
4 0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs367924414
rs367924414
FANCC ; AOPEP
2 0.925 0.120 9 95117321 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018