OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
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: rs267606926
rs267606926 		1.000 0.120 5 69509746 missense variant T/C snv
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1561334604
rs1561334604 		1.000 0.120 5 69509260 frameshift variant ATGGACCTCTCCTCCAGGAGTGA/- delins
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882227
rs730882227 		0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882227
rs730882227 		0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882227
rs730882227 		0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs748442113
rs748442113 		1.000 0.120 5 69534840 splice donor variant G/A;T snv 2.1E-05; 8.6E-06
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749237456
rs749237456 		1.000 0.120 5 69509601 stop gained -/A delins
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045840
rs797045840 		0.925 0.120 5 69534844 splice region variant G/A snv
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045840
rs797045840 		0.925 0.120 5 69534844 splice region variant G/A snv
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045841
rs797045841 		1.000 0.120 5 69509261 frameshift variant GGACCTCTCCTCCAGGAGTGAT/- delins
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863225128
rs863225128 		1.000 0.120 5 69509341 frameshift variant C/- delins
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0