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: rs1559155800
rs1559155800
OBSL1
7 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs1561873941
rs1561873941
CUL7
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
9 0.925 0.200 6 43044835 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1064792895
rs1064792895
CUL7 ; KLC4
1 1.000 0.200 6 43045321 frameshift variant AG/- delins 0.700 0
dbSNP: rs201406974
rs201406974
CUL7 ; KLC4
1 1.000 0.200 6 43046304 stop gained A/C;G snv 9.5E-05 0.700 0
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
2 1.000 0.200 6 43043631 splice acceptor variant C/G snv 0.700 0