Source: BEFREE

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: rs1119032
rs1119032
PCDHA9 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.040 5 140902846 intron variant A/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs155806
rs155806
PCDHA9 ; PCDHAC2 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.040 5 140970255 intron variant A/G snv 8.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs17119271
rs17119271
PCDHA9 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.040 5 140930121 3 prime UTR variant T/C snv 4.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs17119346
rs17119346
PCDHA9 ; PCDHAC2 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.040 5 140994249 intron variant G/A snv 0.29
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs369759015
rs369759015
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.080 5 140849775 missense variant C/A;T snv 8.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 2018 2018
dbSNP: rs781987951
rs781987951
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1.000 0.080 5 140849774 frameshift variant -/TA ins 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 2018 2018