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: rs137852971
rs137852971
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692413 missense variant C/G snv 4.0E-06; 4.0E-06 7.0E-06 0.810 1.000 2 2001 2008
dbSNP: rs1565142553
rs1565142553
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62690523 splice acceptor variant T/G snv 0.700 1.000 1 2002 2002
dbSNP: rs1565144468
rs1565144468
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692463 missense variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs1013079991
rs1013079991
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692475 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517657
rs1057517657
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705371 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1057517658
rs1057517658
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705357 frameshift variant -/AA delins 4.0E-06 0.700 0
dbSNP: rs1057517659
rs1057517659
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705320 frameshift variant G/TCC delins 0.700 0
dbSNP: rs137852970
rs137852970
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62694594 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs137852974
rs137852974
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
2 0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
5 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1554983076
rs1554983076
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62691342 frameshift variant -/C delins 0.700 0
dbSNP: rs1565144681
rs1565144681
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692668 frameshift variant CT/- delins 0.700 0
dbSNP: rs1565152616
rs1565152616
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705300 splice donor variant C/A snv 0.700 0
dbSNP: rs557044760
rs557044760
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705303 stop gained G/A;C snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs587777606
rs587777606
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
6 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587777608
rs587777608
BSCL2 ; HNRNPUL2-BSCL2
2 0.925 0.120 11 62694685 frameshift variant ATACG/- delins 0.700 0
dbSNP: rs747297291
rs747297291
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692690 protein altering variant -/CGG ins 8.0E-06 0.700 0
dbSNP: rs749890533
rs749890533
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62691310 frameshift variant -/C delins 1.4E-05 0.700 0
dbSNP: rs758843908
rs758843908
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692411 frameshift variant G/- delins 0.700 0
dbSNP: rs766061024
rs766061024
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62691423 splice acceptor variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs786205068
rs786205068
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62705320 frameshift variant GG/TCC delins 0.700 0
dbSNP: rs786205069
rs786205069
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62694704 frameshift variant -/TT delins 0.700 0
dbSNP: rs786205070
rs786205070
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62694690 frameshift variant AC/- del 4.0E-06 0.700 0
dbSNP: rs786205071
rs786205071
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62694680 frameshift variant -/T delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs786205072
rs786205072
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.120 11 62692371 splice region variant C/T snv 0.700 0