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: 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: 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: rs1569459580
rs1569459580
PAK3
2 1.000 0.120 X 111196503 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: 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: 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: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
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: rs1057523157
rs1057523157
SETD2
3 0.925 0.120 3 47088172 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
dbSNP: rs1565627707
rs1565627707
TUBA1A
3 0.925 0.240 12 49186657 missense variant C/A snv 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: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs797045005
rs797045005
TUBA1A
4 0.851 0.320 12 49185140 missense variant A/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
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0