Source: CLINVAR

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: 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: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2015 2015
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: 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: 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: 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: rs1567574466
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs587784105
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs113994098
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 3 2002 2011
dbSNP: rs1064793345
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 2 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: 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: 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: 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: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0