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: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.840 1.000 9 2004 2014
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.830 1.000 6 2004 2015
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
3 0.882 0.080 11 62705433 missense variant A/G snv 0.010 1.000 1 2011 2011