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: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
0.776 0.320 6 78969879 frameshift variant A/- delins
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: 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: rs1562171209
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv
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: 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
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: rs267608327
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant 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: rs1555640521
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins
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: 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: 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: rs796052571
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs34002892
rs34002892
GNPTAB
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: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
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: 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: rs1559619762
rs1559619762
FOXP1
1.000 0.040 3 70977827 splice donor variant C/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs797046135
rs797046135
FOXN1
1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0