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: rs1555877286
rs1555877286
SMARCB1
1 1.000 0.160 22 23803395 stop gained C/T snv 0.700 1.000 6 1999 2015
dbSNP: rs1568937197
rs1568937197
SMARCB1
1 1.000 0.160 22 23793689 splice donor variant G/A snv 0.700 1.000 3 1999 2011
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 1.000 3 2012 2014
dbSNP: rs1555877276
rs1555877276
SMARCB1
1 1.000 0.160 22 23803294 splice acceptor variant G/C snv 0.700 1.000 2 1999 2011
dbSNP: rs1568937087
rs1568937087
SMARCB1
1 1.000 0.160 22 23793557 splice acceptor variant A/G snv 0.700 1.000 2 1999 2011
dbSNP: rs1060503015
rs1060503015
SMARCB1
1 1.000 0.160 22 23791780 stop gained C/T snv 0.700 0
dbSNP: rs1060503016
rs1060503016
SMARCB1
2 0.925 0.240 22 23791814 stop gained G/A snv 0.700 0
dbSNP: rs1060503017
rs1060503017
SMARCB1
2 0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del 0.700 0
dbSNP: rs1555875892
rs1555875892
SMARCB1
1 1.000 0.160 22 23791797 stop gained -/GATA delins 0.700 0
dbSNP: rs1555875917
rs1555875917
SMARCB1
1 1.000 0.160 22 23791846 stop gained A/T 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: rs1555881586
rs1555881586
SMARCB1
1 1.000 0.160 22 23833704 splice donor variant G/A snv 0.700 0
dbSNP: rs587776678
rs587776678
SMARCB1
1 1.000 0.160 22 23803383 frameshift variant G/- delins 0.700 0
dbSNP: rs878854600
rs878854600
SMARCB1 ; DERL3
4 0.851 0.240 22 23834262 3 prime UTR variant C/T snv 0.700 0