Gene: BSCL2 ×
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: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.710 1.000 7 2004 2016
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.700 1.000 12 2004 2015
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 1.000 2 2013 2015
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: rs1554982914
rs1554982914
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
1 1.000 0.080 11 62690831 frameshift variant CT/- delins 0.700 0
dbSNP: rs748287282
rs748287282
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.080 11 62702475 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2016 2016