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: rs142923613
rs142923613
NIPBL
1 1.000 0.080 5 36962199 missense variant G/A snv 3.8E-03 3.6E-03 0.700 1.000 9 2004 2017
dbSNP: rs587784012
rs587784012
NIPBL
1 1.000 0.080 5 36955467 splice region variant A/C;G snv 0.700 1.000 3 2004 2007
dbSNP: rs1554019712
rs1554019712
NIPBL
1 1.000 0.080 5 36995805 splice donor variant G/A snv 0.700 1.000 2 2010 2013
dbSNP: rs1561222738
rs1561222738
NIPBL
1 1.000 0.080 5 37057336 splice region variant A/G snv 0.700 1.000 2 2004 2007
dbSNP: rs398124465
rs398124465
NIPBL
1 1.000 0.080 5 36985659 frameshift variant AG/- del 0.700 1.000 2 2004 2019
dbSNP: rs587783968
rs587783968
NIPBL
1 1.000 0.080 5 37022036 intron variant A/G snv 0.700 1.000 2 2016 2016
dbSNP: rs587784020
rs587784020
NIPBL
1 1.000 0.080 5 37048558 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs1057516034
rs1057516034
NIPBL
5 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1561083229
rs1561083229
NIPBL
1 1.000 0.080 5 36962121 splice acceptor variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1561164598
rs1561164598
NIPBL
1 1.000 0.080 5 37017071 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1561169166
rs1561169166
NIPBL
1 1.000 0.080 5 37020458 splice acceptor variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1561207924
rs1561207924
NIPBL
1 1.000 0.080 5 37046137 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs587783933
rs587783933
NIPBL
1 1.000 0.080 5 37003348 splice donor variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs587784048
rs587784048
NIPBL
1 1.000 0.080 5 36971037 splice donor variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs80358367
rs80358367
NIPBL
1 1.000 0.080 5 36955540 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs886042231
rs886042231
NIPBL
1 1.000 0.080 5 37052478 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs121918264
rs121918264
NIPBL
1 1.000 0.080 5 36953698 start lost T/A snv 0.700 0
dbSNP: rs121918266
rs121918266
NIPBL
1 1.000 0.080 5 37001029 inframe deletion ATA/- delins 0.700 0
dbSNP: rs121918267
rs121918267
NIPBL
1 1.000 0.080 5 37020615 stop gained C/T snv 0.700 0
dbSNP: rs121918269
rs121918269
NIPBL
1 1.000 0.080 5 37014728 stop gained C/T snv 0.700 0
dbSNP: rs147054690
rs147054690
NIPBL
1 1.000 0.080 5 37045577 missense variant G/T snv 1.6E-05 1.5E-04 0.700 0
dbSNP: rs149629686
rs149629686
NIPBL
1 1.000 0.080 5 36985783 missense variant G/A snv 2.6E-04 1.9E-04 0.700 0
dbSNP: rs1554011042
rs1554011042
NIPBL
1 1.000 0.080 5 36955557 frameshift variant G/- del 0.700 0
dbSNP: rs1554011046
rs1554011046
NIPBL
1 1.000 0.080 5 36955576 frameshift variant A/- del 0.700 0
dbSNP: rs1554014382
rs1554014382
NIPBL
1 1.000 0.080 5 36972041 missense variant G/A snv 0.700 0