Source: CURATED

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: rs7711337
rs7711337
LOC105377698
1.000 0.040 5 162656512 intron variant G/A;C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.800 1.000 1 2012 2012
dbSNP: rs7741604
rs7741604
CDKAL1
0.925 0.120 6 20731293 intron variant A/C;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2012 2012
dbSNP: rs786205133
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2015 2015
dbSNP: rs926938
rs926938
AMPD1
1.000 0.040 1 114697195 upstream gene variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.800 1.000 1 2014 2014
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057518658
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057518993
rs1057518993
IQSEC2
1.000 0.040 X 53243367 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057518999
rs1057518999
FOXP1
1.000 0.040 3 70977826 splice donor variant A/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs12877501
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1555740394
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
0.790 0.120 2 5693013 frameshift variant T/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0