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: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
5 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
dbSNP: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1558519119
rs1558519119
BCL11A
3 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0
dbSNP: rs750610248
rs750610248
BCL11B
3 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1057519053
rs1057519053
DCC
2 1.000 0.120 18 52925310 frameshift variant A/- del 0.700 0
dbSNP: rs1057519054
rs1057519054
DCC
2 1.000 0.120 18 53386061 missense variant T/G snv 0.700 0
dbSNP: rs1057519055
rs1057519055
DCC
2 1.000 0.120 18 53386097 missense variant G/A snv 0.700 0
dbSNP: rs1057519056
rs1057519056
DCC
2 1.000 0.120 18 53207746 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519057
rs1057519057
DCC
2 1.000 0.120 18 53391876 missense variant G/A snv 0.700 0
dbSNP: rs199651452
rs199651452
DCC
2 1.000 0.120 18 53339775 missense variant A/T snv 4.0E-06 0.700 0
dbSNP: rs754914260
rs754914260
DCC
3 0.925 0.120 18 52923832 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs775565634
rs775565634
DCC
2 1.000 0.120 18 53339808 missense variant G/A snv 1.5E-04 7.7E-05 0.700 0
dbSNP: rs568887534
rs568887534
DCTN6
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11893842
rs11893842
INHA ; OBSL1
2 0.925 0.160 2 219572251 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1569234334
rs1569234334
KIF4A
5 0.851 0.200 X 70329420 missense variant G/T snv 0.700 0
dbSNP: rs80338758
rs80338758
MED12
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0