LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Disease: Donnai-Barrow syndrome ×
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: rs80338747
rs80338747 		0.925 0.320 2 169205630 missense variant A/G snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs760114690
rs760114690 		1.000 0.320 2 169318886 splice acceptor variant T/C snv 8.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2003 2007
dbSNP: rs1358532875
rs1358532875 		1.000 0.320 2 169290935 stop gained G/A;T snv 4.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs138269726
rs138269726 		1.000 0.320 2 169212088 missense variant C/T snv 1.0E-03 7.7E-04
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559043276
rs1559043276 		1.000 0.320 2 169259064 stop gained A/C snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587776717
rs587776717 		1.000 0.320 2 169256237 splice acceptor variant C/T snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs746752313
rs746752313 		1.000 0.320 2 169257123 splice donor variant C/T snv 4.0E-06 7.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786205122
rs786205122 		1.000 0.320 2 169152823 frameshift variant C/- delins
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338743
rs80338743 		1.000 0.320 2 169290999 splice acceptor variant T/C snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338744
rs80338744 		1.000 0.320 2 169282951 stop gained G/A snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338745
rs80338745 		1.000 0.320 2 169280348 splice donor variant A/C snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338748
rs80338748 		1.000 0.320 2 169201627 splice donor variant C/T snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338749
rs80338749 		1.000 0.320 2 169198842 frameshift variant TAAA/- delins
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338750
rs80338750 		1.000 0.320 2 169185989 frameshift variant CT/- del
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338751
rs80338751 		1.000 0.320 2 169185863 frameshift variant CA/- delins
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338752
rs80338752 		1.000 0.320 2 169178001 stop gained G/A;T snv 4.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338753
rs80338753 		1.000 0.320 2 169169727 frameshift variant AACA/- delins 7.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338754
rs80338754 		1.000 0.320 2 169140515 frameshift variant G/-;GG delins
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0