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: rs1554017175
rs1554017175
NIPBL
1 1.000 0.080 5 36985133 frameshift variant -/A delins 0.700 0
dbSNP: rs1554017441
rs1554017441
NIPBL
1 1.000 0.080 5 36985772 frameshift variant -/A delins 0.700 0
dbSNP: rs797045754
rs797045754
NIPBL
1 1.000 0.080 5 36986139 frameshift variant -/A delins 0.700 0
dbSNP: rs797045755
rs797045755
NIPBL
1 1.000 0.080 5 36958185 frameshift variant -/A delins 0.700 0
dbSNP: rs797045761
rs797045761
NIPBL
1 1.000 0.080 5 37010193 frameshift variant -/A delins 0.700 0
dbSNP: rs797045766
rs797045766
NIPBL
1 1.000 0.080 5 37017133 frameshift variant -/A delins 0.700 0
dbSNP: rs797045783
rs797045783
NIPBL
1 1.000 0.080 5 37060970 frameshift variant -/A delins 0.700 0
dbSNP: rs797045786
rs797045786
NIPBL ; CPLANE1
1 1.000 0.080 5 37063841 frameshift variant -/A delins 0.700 0
dbSNP: rs797045749
rs797045749
NIPBL
1 1.000 0.080 5 36955618 frameshift variant -/AG delins 0.700 0
dbSNP: rs797045748
rs797045748
NIPBL
1 1.000 0.080 5 36985171 frameshift variant -/C delins 0.700 0
dbSNP: rs797045764
rs797045764
NIPBL
1 1.000 0.080 5 37014701 frameshift variant -/CCTGTCAACTAACATGT delins 0.700 0
dbSNP: rs797045787
rs797045787
NIPBL ; CPLANE1
1 1.000 0.080 5 37064751 frameshift variant -/CT delins 0.700 0
dbSNP: rs797045768
rs797045768
NIPBL
1 1.000 0.080 5 37019376 stop gained -/CTGA delins 0.700 0
dbSNP: rs1554016981
rs1554016981
NIPBL
1 1.000 0.080 5 36984722 frameshift variant -/G delins 0.700 0
dbSNP: rs1554020579
rs1554020579
NIPBL
1 1.000 0.080 5 37000491 frameshift variant -/G delins 0.700 0
dbSNP: rs1561222491
rs1561222491
NIPBL
1 1.000 0.080 5 37057227 frameshift variant -/G delins 0.700 0
dbSNP: rs797045753
rs797045753
NIPBL
1 1.000 0.080 5 36958159 frameshift variant -/G ins 0.700 0
dbSNP: rs797045785
rs797045785
NIPBL ; CPLANE1
1 1.000 0.080 5 37063837 frameshift variant -/G delins 0.700 0
dbSNP: rs797045763
rs797045763
NIPBL
1 1.000 0.080 5 36961583 splice region variant -/GT delins 0.700 0
dbSNP: rs1554030285
rs1554030285
NIPBL
1 1.000 0.080 5 37038716 frameshift variant -/T ins 0.700 0
dbSNP: rs730880331
rs730880331
NIPBL
1 1.000 0.080 5 37020659 frameshift variant -/T delins 0.700 0
dbSNP: rs797045745
rs797045745
NIPBL
1 1.000 0.080 5 36976052 frameshift variant -/T delins 0.700 0
dbSNP: rs797045758
rs797045758
NIPBL
1 1.000 0.080 5 37008089 splice donor variant -/T delins 0.700 0
dbSNP: rs797045771
rs797045771
NIPBL
1 1.000 0.080 5 37024589 frameshift variant -/T delins 0.700 0
dbSNP: rs797045772
rs797045772
NIPBL
1 1.000 0.080 5 37024687 frameshift variant -/T delins 0.700 0