Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199590018
rs199590018
SYP
0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2017 2017
dbSNP: rs1057519053
rs1057519053
DCC
1.000 0.120 18 52925310 frameshift variant A/- del
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057519054
rs1057519054
DCC
1.000 0.120 18 53386061 missense variant T/G snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057519055
rs1057519055
DCC
1.000 0.120 18 53386097 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057519056
rs1057519056
DCC
1.000 0.120 18 53207746 missense variant G/A;C snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057519057
rs1057519057
DCC
1.000 0.120 18 53391876 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1558519119
rs1558519119
BCL11A
0.925 0.120 2 60546061 frameshift variant C/- del
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1569459580
rs1569459580
PAK3
1.000 0.120 X 111196503 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs199651452
rs199651452
DCC
1.000 0.120 18 53339775 missense variant A/T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs754914260
rs754914260
DCC
0.925 0.120 18 52923832 stop gained C/A;T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs775565634
rs775565634
DCC
1.000 0.120 18 53339808 missense variant G/A snv 1.5E-04 7.7E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs782785654
rs782785654
TMLHE ; TMLHE-AS1
1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs11893842
rs11893842
INHA ; OBSL1
0.925 0.160 2 219572251 intron variant A/G snv 0.45
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2014 2014
dbSNP: rs1555682265
rs1555682265
DCC
0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 1.000 1 2017 2017
dbSNP: rs387907252
rs387907252
VAX1
0.882 0.160 10 117134559 missense variant G/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2012 2012
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs750195040
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1285675735
rs1285675735
SORD
0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2014 2014
dbSNP: rs148634289
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2014 2014
dbSNP: rs750610248
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 1.000 1 2016 2016
dbSNP: rs1569234334
rs1569234334
KIF4A
0.851 0.200 X 70329420 missense variant G/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0