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: rs121908571
rs121908571
BCS1L
1 1.000 2 218662620 missense variant G/A snv 0.800 1.000 7 2001 2013
dbSNP: rs121908573
rs121908573
BCS1L
1 1.000 2 218661762 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 2001 2013
dbSNP: rs121908574
rs121908574
BCS1L
1 1.000 2 218663183 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 7 2001 2013
dbSNP: rs121908575
rs121908575
BCS1L ; ZNF142
1 1.000 2 218661120 missense variant C/G;T snv 8.0E-06; 1.2E-05 0.800 1.000 7 2001 2013
dbSNP: rs121908578
rs121908578
BCS1L
3 0.882 0.200 2 218661848 missense variant C/T snv 1.8E-04 1.0E-04 0.800 1.000 7 2001 2013
dbSNP: rs121908580
rs121908580
BCS1L ; ZNF142
1 1.000 2 218661135 missense variant A/G snv 0.800 1.000 7 2001 2013
dbSNP: rs144885874
rs144885874
BCS1L
2 0.925 0.040 2 218661845 missense variant C/T snv 1.2E-05 7.7E-05 0.800 1.000 7 2001 2013
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
4 0.882 0.280 2 218661283 missense variant C/T snv 0.700 1.000 7 2001 2013
dbSNP: rs140812286
rs140812286
BCS1L ; ZNF142
1 1.000 2 218661204 missense variant C/G;T snv 1.6E-04 4.9E-05 0.700 1.000 7 2001 2013
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 1.000 2 2002 2011
dbSNP: rs776838028
rs776838028
BCS1L
1 1.000 2 218661896 stop gained C/T snv 4.0E-06 3.5E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057521059
rs1057521059
BCS1L ; ZNF142
1 1.000 2 218661470 missense variant G/A snv 0.700 0
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