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: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1555031372
rs1555031372
DPF2
3 0.925 0.280 11 65345981 missense variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1028186690
rs1028186690
ARID1B
1 1.000 0.280 6 157206971 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518648
rs1057518648
ARID1B
1 1.000 0.280 6 156777946 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1057518691
rs1057518691
ARID1B
1 1.000 0.280 6 157189781 splice donor variant G/C snv 0.700 0
dbSNP: rs1131692263
rs1131692263
ARID1B
1 1.000 0.280 6 157174077 frameshift variant CAAAG/- delins 0.700 0
dbSNP: rs1404726383
rs1404726383
ARID1B
1 1.000 0.280 6 157181180 splice donor variant T/C;G snv 1.4E-05 0.700 0
dbSNP: rs1451259945
rs1451259945
ARID1B
1 1.000 0.280 6 157206623 stop gained G/A;T snv 4.0E-06 4.2E-05 0.700 0
dbSNP: rs1554231836
rs1554231836
ARID1B
1 1.000 0.280 6 157184315 stop gained C/T snv 0.700 0
dbSNP: rs1554231845
rs1554231845
ARID1B
1 1.000 0.280 6 157184333 frameshift variant T/- delins 0.700 0
dbSNP: rs1554232959
rs1554232959
ARID1B
1 1.000 0.280 6 157189721 frameshift variant -/A delins 0.700 0
dbSNP: rs1554234341
rs1554234341
ARID1B
1 1.000 0.280 6 157196200 stop gained C/T snv 0.700 0
dbSNP: rs1554235834
rs1554235834
ARID1B
1 1.000 0.280 6 157201130 stop gained G/A snv 0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
5 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
dbSNP: rs1554237269
rs1554237269
ARID1B
1 1.000 0.280 6 157206531 frameshift variant TGTT/- delins 0.700 0
dbSNP: rs1554237658
rs1554237658
ARID1B
3 0.925 0.280 6 157206917 stop gained C/T snv 0.700 0
dbSNP: rs1554237992
rs1554237992
ARID1B
1 1.000 0.280 6 157207393 stop gained -/CCCTCTGTAAACTCAGTATCCAGGACAA delins 0.700 0
dbSNP: rs1554238072
rs1554238072
ARID1B
1 1.000 0.280 6 157207523 stop gained C/T snv 0.700 0
dbSNP: rs1554248236
rs1554248236
ARID1B ; MIR4466
1 1.000 0.280 6 156779412 stop gained C/T snv 0.700 0
dbSNP: rs1554256703
rs1554256703
ARID1B
3 0.925 0.280 6 156829302 stop gained C/T snv 0.700 0
dbSNP: rs1554265271
rs1554265271
ARID1B
1 1.000 0.280 6 156901427 stop gained C/T snv 0.700 0
dbSNP: rs1554265275
rs1554265275
ARID1B
1 1.000 0.280 6 156901439 stop gained -/A delins 0.700 0
dbSNP: rs1554265319
rs1554265319
ARID1B
1 1.000 0.280 6 156901497 frameshift variant -/G delins 0.700 0
dbSNP: rs1554270809
rs1554270809
ARID1B
1 1.000 0.280 6 156935499 stop gained C/T snv 0.700 0
dbSNP: rs1554294593
rs1554294593
ARID1B
1 1.000 0.280 6 157084701 stop gained G/T snv 0.700 0