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: rs886041936
rs886041936
HDAC8
14 0.827 0.120 X 72495210 stop gained G/A 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: rs797045789
rs797045789
NIPBL ; CPLANE1
1 1.000 0.080 5 37064819 frameshift variant CTAATAA/ATT delins 0.700 0
dbSNP: rs587784056
rs587784056
NIPBL ; CPLANE1
1 1.000 0.080 5 37064776 frameshift variant AA/- delins 0.700 0
dbSNP: rs797045788
rs797045788
NIPBL ; CPLANE1
1 1.000 0.080 5 37064773 protein altering variant ATTAA/TT delins 0.700 0
dbSNP: rs587784055
rs587784055
NIPBL ; CPLANE1
1 1.000 0.080 5 37064752 frameshift variant GGTGCCT/- delins 0.700 0
dbSNP: rs797045787
rs797045787
NIPBL ; CPLANE1
1 1.000 0.080 5 37064751 frameshift variant -/CT delins 0.700 0
dbSNP: rs587784053
rs587784053
NIPBL ; CPLANE1
1 1.000 0.080 5 37064650 missense variant G/C snv 0.700 0
dbSNP: rs587784052
rs587784052
NIPBL ; CPLANE1
1 1.000 0.080 5 37064642 frameshift variant CACAAATTGCAAGAGTAGT/- del 0.700 0
dbSNP: rs797045786
rs797045786
NIPBL ; CPLANE1
1 1.000 0.080 5 37063841 frameshift variant -/A delins 0.700 0
dbSNP: rs797045785
rs797045785
NIPBL ; CPLANE1
1 1.000 0.080 5 37063837 frameshift variant -/G delins 0.700 0
dbSNP: rs727503771
rs727503771
NIPBL ; CPLANE1
1 1.000 0.080 5 37063829 frameshift variant GAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAA/- 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: rs587784050
rs587784050
NIPBL
1 1.000 0.080 5 37061007 stop gained C/T snv 0.700 0
dbSNP: rs797045784
rs797045784
NIPBL
1 1.000 0.080 5 37060996 frameshift variant -/TA delins 0.700 0
dbSNP: rs1554035311
rs1554035311
NIPBL
1 1.000 0.080 5 37060990 missense variant A/G snv 0.700 0
dbSNP: rs797045783
rs797045783
NIPBL
1 1.000 0.080 5 37060970 frameshift variant -/A delins 0.700 0
dbSNP: rs80358371
rs80358371
NIPBL
1 1.000 0.080 5 37060963 frameshift variant -/T delins 0.700 0
dbSNP: rs80358368
rs80358368
NIPBL
1 1.000 0.080 5 37060946 frameshift variant C/- delins 0.700 0
dbSNP: rs1554035266
rs1554035266
NIPBL
1 1.000 0.080 5 37060860 frameshift variant T/- del 0.700 0
dbSNP: rs587784047
rs587784047
NIPBL
1 1.000 0.080 5 37060854 frameshift variant CTCTCCATCTGAATCTGCAAAAGTA/- delins 0.700 0
dbSNP: rs727503772
rs727503772
NIPBL
1 1.000 0.080 5 37059117 missense variant T/C snv 0.700 0
dbSNP: rs587784043
rs587784043
NIPBL
1 1.000 0.080 5 37058914 frameshift variant GA/- delins 0.700 0
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: rs587784040
rs587784040
NIPBL
1 1.000 0.080 5 37057257 inframe deletion CCG/- delins 0.700 0