CENPF, centromere protein F, 1063

N. diseases: 76; N. variants: 10
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies ×
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: rs200976140
rs200976140 		1.000 0.200 1 214641072 stop gained G/T snv 4.9E-05
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs367624766
rs367624766 		1.000 0.200 1 214640082 stop gained G/A;T snv 1.3E-04; 4.7E-05
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs376767238
rs376767238 		1.000 0.200 1 214620653 splice acceptor variant A/C snv 7.0E-06
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs757531591
rs757531591 		1.000 0.200 1 214645483 frameshift variant A/-;AA delins
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs757575602
rs757575602 		1.000 0.200 1 214614834 frameshift variant TGAAAAAACCGAGGGTACAAACCTGAAAA/- delins 2.8E-05
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs776697039
rs776697039 		1.000 0.200 1 214642525 frameshift variant GACA/- delins 4.0E-06
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs779120472
rs779120472 		1.000 0.200 1 214647209 stop gained G/T snv 5.6E-05 1.4E-05
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205697
rs786205697 		1.000 0.200 1 214657139 stop gained C/T snv
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312748
rs869312748 		1.000 0.200 1 214663729 stop gained C/G;T snv 4.0E-06
CUI: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0