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: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
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: rs1190999960
rs1190999960
ZNRD2 ; FAM89B ; ZNRD2-AS1
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1285675735
rs1285675735
SORD
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
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: 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: 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: rs1057517858
rs1057517858
TUBA1A
3 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
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: rs1057523157
rs1057523157
SETD2
3 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs1558519119
rs1558519119
BCL11A
3 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0