FZD3, frizzled class receptor 3, 7976

N. diseases: 39; N. variants: 4
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: rs1563406024
rs1563406024
0.851 0.240 8 28555799 frameshift variant -/A delins
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
Nervous System Diseases 0.700 0
dbSNP: rs1563406024
rs1563406024
0.851 0.240 8 28555799 frameshift variant -/A delins
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1563406024
rs1563406024
0.851 0.240 8 28555799 frameshift variant -/A delins
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1563406024
rs1563406024
0.851 0.240 8 28555799 frameshift variant -/A delins
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs17059206
rs17059206
1.000 0.080 8 28554946 intron variant A/T snv 1.8E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2323019
rs2323019
1.000 0.040 8 28533453 intron variant G/A snv 0.53
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs352203
rs352203
1.000 0.040 8 28537184 intron variant C/T snv 0.61
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2016 2016