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: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs199590018
rs199590018
SYP
3 0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057519055
rs1057519055
DCC
2 1.000 0.120 18 53386097 missense variant G/A snv 0.700 0
dbSNP: rs1057519057
rs1057519057
DCC
2 1.000 0.120 18 53391876 missense variant G/A snv 0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
3 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs1569459580
rs1569459580
PAK3
2 1.000 0.120 X 111196503 missense variant G/A snv 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: rs782785654
rs782785654
TMLHE ; TMLHE-AS1
2 1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05 0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
5 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs587780072
rs587780072
TP53
3 0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs1057519056
rs1057519056
DCC
2 1.000 0.120 18 53207746 missense variant G/A;C snv 0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1569234334
rs1569234334
KIF4A
5 0.851 0.200 X 70329420 missense variant G/T snv 0.700 0
dbSNP: rs1057519054
rs1057519054
DCC
2 1.000 0.120 18 53386061 missense variant T/G 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