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: rs878853665
rs878853665
FANCA ; ZNF276
1 1.000 0.120 16 89740024 missense variant A/G snv 0.700 1.000 11 1997 2009
dbSNP: rs1429943036
rs1429943036
FANCA
1 1.000 0.120 16 89749805 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs1555533300
rs1555533300
FANCA ; ZNF276
1 1.000 0.120 16 89739220 missense variant C/T snv 0.700 1.000 9 1997 2008
dbSNP: rs1555533313
rs1555533313
FANCA ; ZNF276
1 1.000 0.120 16 89739225 missense variant C/A snv 0.700 1.000 9 1997 2008
dbSNP: rs1555534579
rs1555534579
FANCA ; ZNF276
1 1.000 0.120 16 89740848 missense variant A/G snv 0.700 1.000 9 1997 2008
dbSNP: rs374030577
rs374030577
FANCA
1 1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs76275444
rs76275444
FANCA
1 1.000 0.120 16 89816592 missense variant G/A;C snv 5.0E-03 0.700 1.000 9 1997 2008
dbSNP: rs776969626
rs776969626
FANCA ; ZNF276
1 1.000 0.120 16 89739175 frameshift variant TG/- delins 0.700 1.000 5 2011 2016
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: rs1283284704
rs1283284704
FANCA
1 1.000 0.120 16 89761970 stop gained -/TCAGGTTGAATTTCCAGCT delins 4.0E-06 2.1E-05 0.700 1.000 4 1997 2015
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: 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: 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: rs1205909298
rs1205909298
FANCA
1 1.000 0.120 16 89767218 frameshift variant A/- delins 7.0E-06 0.700 1.000 3 1997 2009
dbSNP: rs1555538571
rs1555538571
FANCA
1 1.000 0.120 16 89749730 missense variant C/T snv 0.700 1.000 3 2005 2014
dbSNP: rs1555545592
rs1555545592
FANCA
1 1.000 0.120 16 89765068 splice acceptor variant T/A snv 0.700 1.000 3 1999 2013
dbSNP: rs1555580427
rs1555580427
FANCA
1 1.000 0.120 16 89815903 stop gained G/A snv 0.700 1.000 3 1999 2016
dbSNP: rs751266148
rs751266148
FANCA
1 1.000 0.120 16 89748658 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 3 2013 2016
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: 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: 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
dbSNP: rs927630499
rs927630499
FANCA
1 1.000 0.120 16 89758688 stop gained C/T snv 0.700 1.000 3 2008 2013
dbSNP: rs1247378731
rs1247378731
FANCA
1 1.000 0.120 16 89767213 stop gained G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs1285346388
rs1285346388
FANCA
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008