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: rs1057516034
rs1057516034
NIPBL
5 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918264
rs121918264
NIPBL
1 1.000 0.080 5 36953698 start lost T/A snv 0.700 0
dbSNP: rs121918265
rs121918265
NIPBL
1 1.000 0.080 5 37057211 missense variant A/G snv 0.800 1.000 9 2004 2017
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: rs121918268
rs121918268
NIPBL
1 1.000 0.080 5 37002734 missense variant C/G snv 0.800 1.000 9 2004 2017
dbSNP: rs121918269
rs121918269
NIPBL
1 1.000 0.080 5 37014728 stop gained C/T snv 0.700 0
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: 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
dbSNP: rs1554015145
rs1554015145
NIPBL
1 1.000 0.080 5 36976049 frameshift variant A/- delins 0.700 0
dbSNP: rs1554015303
rs1554015303
NIPBL
2 1.000 0.080 5 36976342 stop gained C/T snv 0.700 0
dbSNP: rs1554016981
rs1554016981
NIPBL
1 1.000 0.080 5 36984722 frameshift variant -/G delins 0.700 0
dbSNP: rs1554017175
rs1554017175
NIPBL
1 1.000 0.080 5 36985133 frameshift variant -/A delins 0.700 0
dbSNP: rs1554017345
rs1554017345
NIPBL
1 1.000 0.080 5 36985641 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs1554017441
rs1554017441
NIPBL
1 1.000 0.080 5 36985772 frameshift variant -/A delins 0.700 0
dbSNP: rs1554017661
rs1554017661
NIPBL
1 1.000 0.080 5 36986287 stop gained C/G snv 0.700 0
dbSNP: rs1554019663
rs1554019663
NIPBL
1 1.000 0.080 5 36995637 stop gained C/A snv 0.700 0
dbSNP: rs1554019667
rs1554019667
NIPBL
1 1.000 0.080 5 36995648 stop gained G/T snv 0.700 0
dbSNP: rs1554019698
rs1554019698
NIPBL
1 1.000 0.080 5 36995747 frameshift variant C/- delins 0.700 0
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: rs1554020579
rs1554020579
NIPBL
1 1.000 0.080 5 37000491 frameshift variant -/G delins 0.700 0