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: rs121908577
rs121908577
BCS1L
2 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 2 2007 2013
dbSNP: rs587777278
rs587777278
BCS1L
1 1.000 0.200 2 218662894 missense variant T/A snv 0.800 1.000 2 2007 2013
dbSNP: rs201454788
rs201454788
BCS1L
2 0.925 0.360 2 218662661 stop gained C/T snv 2.0E-05 4.9E-05 0.700 1.000 3 2007 2015
dbSNP: rs121908578
rs121908578
BCS1L
3 0.882 0.200 2 218661848 missense variant C/T snv 1.8E-04 1.0E-04 0.700 1.000 2 2007 2013
dbSNP: rs121908579
rs121908579
BCS1L ; ZNF142
2 0.925 0.200 2 218661090 missense variant G/C snv 0.700 1.000 2 2007 2013
dbSNP: rs1280810181
rs1280810181
BCS1L
1 1.000 0.200 2 218662910 missense variant G/A snv 1.4E-05 0.700 1.000 2 2007 2013
dbSNP: rs1457171169
rs1457171169
BCS1L
1 1.000 0.200 2 218662897 missense variant C/A;G snv 4.0E-06 0.700 1.000 2 2007 2013
dbSNP: rs778769841
rs778769841
BCS1L ; ZNF142
1 1.000 0.200 2 218661425 missense variant C/T snv 8.4E-05; 4.0E-06 4.9E-05 0.700 1.000 2 2007 2013
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.700 0