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: rs587783968
rs587783968
NIPBL
1 1.000 0.080 5 37022036 intron variant A/G snv 0.700 1.000 2 2016 2016
dbSNP: rs1057516034
rs1057516034
NIPBL
5 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs80358367
rs80358367
NIPBL
1 1.000 0.080 5 36955540 stop gained C/T snv 0.700 1.000 1 2010 2010
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: rs1554015303
rs1554015303
NIPBL
2 1.000 0.080 5 36976342 stop gained C/T snv 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: rs1554020997
rs1554020997
NIPBL
1 1.000 0.080 5 37002695 stop gained T/G snv 0.700 0
dbSNP: rs1554032954
rs1554032954
NIPBL
1 1.000 0.080 5 37049143 stop gained G/T snv 0.700 0
dbSNP: rs1561102868
rs1561102868
NIPBL
1 1.000 0.080 5 36976358 stop gained C/G snv 0.700 0
dbSNP: rs1561145912
rs1561145912
NIPBL
1 1.000 0.080 5 37006489 stop gained G/T snv 0.700 0
dbSNP: rs398124466
rs398124466
NIPBL
1 1.000 0.080 5 36985782 stop gained C/T snv 0.700 0
dbSNP: rs398124471
rs398124471
NIPBL
1 1.000 0.080 5 37052522 stop gained C/T snv 0.700 0
dbSNP: rs398124474
rs398124474
NIPBL ; CPLANE1
1 1.000 0.080 5 37064854 stop gained C/T snv 0.700 0
dbSNP: rs587783879
rs587783879
NIPBL
1 1.000 0.080 5 36975964 stop gained A/T snv 0.700 0
dbSNP: rs587783882
rs587783882
NIPBL
1 1.000 0.080 5 36976090 stop gained C/T snv 0.700 0
dbSNP: rs587783883
rs587783883
NIPBL
1 1.000 0.080 5 36976204 stop gained C/T snv 0.700 0
dbSNP: rs587783884
rs587783884
NIPBL
1 1.000 0.080 5 36976279 stop gained C/T snv 0.700 0
dbSNP: rs587783886
rs587783886
NIPBL
1 1.000 0.080 5 36955552 stop gained G/T snv 0.700 0
dbSNP: rs587783889
rs587783889
NIPBL
1 1.000 0.080 5 36984756 stop gained C/T snv 0.700 0
dbSNP: rs587783892
rs587783892
NIPBL
1 1.000 0.080 5 36985065 stop gained C/T snv 0.700 0
dbSNP: rs587783896
rs587783896
NIPBL
1 1.000 0.080 5 36985273 stop gained C/G snv 0.700 0
dbSNP: rs587783899
rs587783899
NIPBL
1 1.000 0.080 5 36985440 stop gained C/T snv 0.700 0