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: rs1554699491
rs1554699491
AGTPBP1
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
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: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
10 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs376103091
rs376103091
EARS2
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
dbSNP: rs1085308004
rs1085308004
FBN1
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs137854467
rs137854467
FBN1
7 0.790 0.280 15 48600217 missense variant G/A snv 0.700 0
dbSNP: rs1555397413
rs1555397413
FBN1
13 0.732 0.280 15 48470705 missense variant T/C snv 0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs397515789
rs397515789
FBN1
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0