PCDHA6, protocadherin alpha 6, 56142

N. diseases: 6; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3806843
rs3806843 		1.000 0.040 5 140832953 intron variant T/C snv 0.59
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 2 2016 2018
dbSNP: rs150616068
rs150616068 		5 140904631 intron variant G/A snv 2.9E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs150616068
rs150616068 		5 140904631 intron variant G/A snv 2.9E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs155806
rs155806 		1.000 0.040 5 140970255 intron variant A/G snv 8.9E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs190175998
rs190175998 		5 140937818 intron variant A/T snv 2.9E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs6880234
rs6880234 		1.000 0.080 5 140836371 missense variant C/G snv 4.4E-03 1.6E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1119032
rs1119032 		1.000 0.040 5 140902846 intron variant A/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs155806
rs155806 		1.000 0.040 5 140970255 intron variant A/G snv 8.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs17119271
rs17119271 		1.000 0.040 5 140930121 3 prime UTR variant T/C snv 4.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs17119346
rs17119346 		1.000 0.040 5 140994249 intron variant G/A snv 0.29
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs369759015
rs369759015 		1.000 0.080 5 140849775 missense variant C/A;T snv 8.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs781987951
rs781987951 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018