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: rs267607071
rs267607071
SMARCAL1
2 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 8 2002 2015
dbSNP: rs200666300
rs200666300
SMARCAL1
1 1.000 0.280 2 216477140 missense variant G/A snv 2.1E-05 0.710 1.000 4 2002 2018
dbSNP: rs119473033
rs119473033
SMARCAL1
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 1.000 11 2002 2017
dbSNP: rs119473037
rs119473037
SMARCAL1
1 1.000 0.280 2 216450927 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 4 2002 2015
dbSNP: rs1313658611
rs1313658611
SMARCAL1
1 1.000 0.280 2 216450924 missense variant C/T snv 4.0E-06 0.700 1.000 3 2002 2009
dbSNP: rs200644381
rs200644381
SMARCAL1
1 1.000 0.280 2 216464640 missense variant C/G;T snv 1.0E-04 0.700 1.000 3 2002 2009
dbSNP: rs761546902
rs761546902
SMARCAL1
1 1.000 0.280 2 216420297 splice acceptor variant A/G snv 1.2E-04 4.2E-05 0.700 1.000 2 2002 2012
dbSNP: rs766291662
rs766291662
SMARCAL1
1 1.000 0.280 2 216428638 frameshift variant T/- del 5.6E-05 0.700 1.000 1 2002 2002
dbSNP: rs119473034
rs119473034
SMARCAL1
1 1.000 0.280 2 216414753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs119473035
rs119473035
SMARCAL1
1 1.000 0.280 2 216414804 stop gained C/T snv 0.700 0
dbSNP: rs119473036
rs119473036
SMARCAL1
1 1.000 0.280 2 216435495 missense variant T/A;C snv 0.700 0
dbSNP: rs119473038
rs119473038
SMARCAL1
1 1.000 0.280 2 216447063 missense variant C/T snv 8.0E-06 1.5E-05 0.700 0
dbSNP: rs149425324
rs149425324
SMARCAL1
1 1.000 0.280 2 216475345 stop gained C/A;G;T snv 8.0E-06; 1.6E-05 0.700 0
dbSNP: rs1553526162
rs1553526162
SMARCAL1
1 1.000 0.280 2 216432766 inframe insertion -/CTGGGG delins 0.700 0
dbSNP: rs1553535161
rs1553535161
SMARCAL1
1 1.000 0.280 2 216478244 missense variant G/A snv 0.700 0
dbSNP: rs1559138455
rs1559138455
SMARCAL1
1 1.000 0.280 2 216475452 splice donor variant G/A snv 0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
5 0.882 0.400 2 216423668 stop gained G/T snv 0.700 0
dbSNP: rs1310728559
rs1310728559
SMARCAL1
2 0.925 0.320 2 216478249 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs865906391
rs865906391
SMARCAL1
1 1.000 0.280 2 216438456 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005