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: rs587777479
rs587777479
SOX11 ; LINC01248
1 1.000 2 5693068 missense variant A/G snv 0.800 1.000 1 2014 2014
dbSNP: rs587777480
rs587777480
SOX11 ; LINC01248
1 1.000 2 5692899 missense variant T/C snv 0.800 1.000 1 2014 2014
dbSNP: rs1057518672
rs1057518672
SOX11
1 1.000 2 5694007 stop gained G/A snv 0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs1558373293
rs1558373293
SOX11 ; LINC01248
1 1.000 2 5693043 missense variant A/G snv 0.700 0