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: 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: 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: 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: 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: 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: 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: 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: 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: rs1566446604
rs1566446604
CHD8
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: 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: rs1558373252
rs1558373252
SOX11 ; LINC01248
0.790 0.120 2 5693013 frameshift variant T/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs62643608
rs62643608
CDKL5
0.882 0.200 X 18575390 frameshift variant T/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs81002885
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
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: 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: rs797046134
rs797046134
ALDH1A3 ; LOC101927751
1.000 0.040 15 100914748 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
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