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: rs1554030285
rs1554030285
NIPBL
1 1.000 0.080 5 37038716 frameshift variant -/T ins 0.700 0
dbSNP: rs1554031864
rs1554031864
NIPBL
1 1.000 0.080 5 37044648 frameshift variant TGTG/- delins 0.700 0
dbSNP: rs1554032085
rs1554032085
NIPBL
1 1.000 0.080 5 37045498 frameshift variant -/TAAC delins 0.700 0
dbSNP: rs1554032266
rs1554032266
NIPBL
1 1.000 0.080 5 37046204 splice region variant G/A snv 0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1554032954
rs1554032954
NIPBL
1 1.000 0.080 5 37049143 stop gained G/T snv 0.700 0
dbSNP: rs1554035266
rs1554035266
NIPBL
1 1.000 0.080 5 37060860 frameshift variant T/- del 0.700 0
dbSNP: rs1554035311
rs1554035311
NIPBL
1 1.000 0.080 5 37060990 missense variant A/G 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: rs1561214997
rs1561214997
NIPBL
1 1.000 0.080 5 37051822 frameshift variant C/- del 0.700 0
dbSNP: rs1561222491
rs1561222491
NIPBL
1 1.000 0.080 5 37057227 frameshift variant -/G delins 0.700 0
dbSNP: rs1561231553
rs1561231553
NIPBL ; CPLANE1
1 1.000 0.080 5 37063789 splice acceptor variant G/C 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: rs587783877
rs587783877
NIPBL
1 1.000 0.080 5 36975910 frameshift variant G/- del 0.700 0
dbSNP: rs587783878
rs587783878
NIPBL
1 1.000 0.080 5 36975937 frameshift variant TATG/- delins 0.700 0
dbSNP: rs587783879
rs587783879
NIPBL
1 1.000 0.080 5 36975964 stop gained A/T snv 0.700 0
dbSNP: rs587783880
rs587783880
NIPBL
1 1.000 0.080 5 36975992 frameshift variant TT/- delins 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: rs587783887
rs587783887
NIPBL
1 1.000 0.080 5 36976384 missense variant A/G snv 0.700 0