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: rs1566446604
rs1566446604
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 4 2012 2016
dbSNP: rs1064794254
rs1064794254
0.851 0.120 X 119841185 frameshift variant CT/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 3 2007 2012
dbSNP: rs113994098
rs113994098
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: rs1555144459
rs1555144459
0.925 0.120 12 32841038 frameshift variant -/A delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 3 2010 2017
dbSNP: rs34002892
rs34002892
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 3 2006 2014
dbSNP: rs1064793345
rs1064793345
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: rs1135402760
rs1135402760
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 1 2019 2019
dbSNP: rs121909323
rs121909323
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: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 1 2006 2006
dbSNP: rs786205133
rs786205133
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: rs1057518345
rs1057518345
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1057518658
rs1057518658
1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1057518993
rs1057518993
1.000 0.040 X 53243367 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1057518999
rs1057518999
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
1.000 0.040 X 51744647 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1057521223
rs1057521223
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
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1085307845
rs1085307845
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs12877501
rs12877501
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
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs148881970
rs148881970
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
dbSNP: rs1553920379
rs1553920379
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0