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: rs281875226
rs281875226
SMARCA4
2 1.000 19 11019661 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs281875227
rs281875227
SMARCA4
2 1.000 19 11021761 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs281875228
rs281875228
SMARCA4
1 1.000 19 11021869 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs281875229
rs281875229
SMARCA4
1 1.000 19 11024389 missense variant T/C snv 0.800 1.000 1 2012 2012
dbSNP: rs281875230
rs281875230
SMARCA4
1 1.000 19 11030816 missense variant C/G snv 0.800 1.000 1 2012 2012
dbSNP: rs1060499936
rs1060499936
SMARCA4
1 1.000 19 11021959 missense variant G/A snv 0.700 0
dbSNP: rs1568456200
rs1568456200
SMARCA4
2 0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins 0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
5 0.882 0.080 19 11021755 missense variant G/A snv 0.700 0
dbSNP: rs587779750
rs587779750
SMARCA4
1 1.000 19 11034171 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs770014321
rs770014321
SMARCA4
1 1.000 19 11025467 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs797045981
rs797045981
SMARCA4
2 0.925 0.040 19 11023594 missense variant G/A snv 0.700 0
dbSNP: rs797045984
rs797045984
SMARCA4
1 1.000 19 11033477 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs876657378
rs876657378
SMARCA4
1 1.000 19 10996250 inframe deletion AAG/- delins 0.700 0