Source: GWASCAT

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: rs55661361
rs55661361
NRGN
1.000 0.040 11 124744061 intron variant G/A snv 0.43
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 2 2017 2019
dbSNP: rs1006737
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs10099100
rs10099100 		8 10719265 downstream gene variant G/C snv 0.32
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2019 2019
dbSNP: rs10110094
rs10110094 		8 130459801 intergenic variant A/C;G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2019 2019
dbSNP: rs10149470
rs10149470 		1.000 0.040 14 103551616 upstream gene variant A/G snv 0.54
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2019 2019
dbSNP: rs10211550
rs10211550
MOB4 ; HSPE1-MOB4
1.000 0.040 2 197518575 intron variant G/T snv 0.37
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs1024582
rs1024582
CACNA1C
1.000 0.040 12 2293080 intron variant A/G;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs10503253
rs10503253
CSMD1
0.851 0.040 8 4323322 intron variant C/A snv 0.18
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs10520163
rs10520163
CLCN3
1.000 0.040 4 169705401 intron variant T/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs10791097
rs10791097
LINC02551
1.000 0.040 11 130848735 intron variant T/G snv 0.60
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs10791111
rs10791111 		1.000 0.040 11 130986204 intergenic variant T/G snv 0.45
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs1080500
rs1080500 		1.000 0.040 3 53141001 intergenic variant G/A snv 0.27
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs10994359
rs10994359
ANK3
0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs10994397
rs10994397
ANK3
0.851 0.040 10 60519366 intron variant C/T snv 9.5E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs111312615
rs111312615
HLA-A
1.000 0.040 6 29955302 upstream gene variant T/G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs11152369
rs11152369
TCF4
0.851 0.040 18 55399097 intron variant A/C snv 6.3E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs111639056
rs111639056
HLA-DRB2
1.000 0.040 6 32570699 intergenic variant G/A snv 0.12
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs11185408
rs11185408 		1 104249635 intergenic variant G/A;C snv 0.55
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2019 2019
dbSNP: rs11191419
rs11191419
BORCS7 ; BORCS7-ASMT
1.000 0.040 10 102852578 intron variant T/A snv 0.36
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs11191580
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2013 2013
dbSNP: rs11191582
rs11191582
NT5C2
1.000 0.040 10 103153896 intron variant G/A snv 7.7E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs111931861
rs111931861
KMT2E
7 105103772 non coding transcript exon variant A/G snv 4.5E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2019 2019
dbSNP: rs111977918
rs111977918
HLA-C
1.000 0.040 6 31268274 downstream gene variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs11210195
rs11210195
LOC105378800
1.000 0.040 1 73283600 intergenic variant C/T snv 0.44
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017