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: rs387906812
rs387906812
SMARCB1 ; DERL3
3 0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06 0.800 1.000 3 2012 2013
dbSNP: rs398122368
rs398122368
SMARCB1
3 0.925 0.040 22 23791772 missense variant G/A;C snv 0.800 1.000 3 2012 2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
4 0.925 22 23834143 missense variant G/A snv 0.800 1.000 2 2013 2015
dbSNP: rs886039520
rs886039520
SMARCB1
1 1.000 22 23833681 missense variant C/T snv 0.700 1.000 3 2012 2013
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1555877287
rs1555877287
SMARCB1
1 1.000 22 23803396 missense variant G/A snv 0.700 0
dbSNP: rs1555881567
rs1555881567
SMARCB1
2 0.925 0.160 22 23833655 missense variant C/G;T snv 0.700 0
dbSNP: rs797045989
rs797045989
SMARCB1
1 1.000 22 23833672 missense variant A/G snv 0.700 0