TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
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: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1849677
Disease: Numerous nevi
Numerous nevi 		Neoplasms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0277959
Disease: Coarse hair
Coarse hair 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0030252
Disease: Palpitations
Palpitations 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0