EXOC6B, exocyst complex component 6B, 23233

N. diseases: 63; N. variants: 5
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: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0040485
Disease: Torticollis
Torticollis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064795104
rs1064795104 		0.790 0.440 2 72498492 stop gained A/C snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 1.000 2 2013 2014
dbSNP: rs10193543
rs10193543 		2 72256200 intron variant T/G snv 0.13
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs138296890
rs138296890 		2 72345606 intron variant T/C snv 3.7E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553417206
rs1553417206 		1.000 2 72465341 splice acceptor variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553417206
rs1553417206 		1.000 2 72465341 splice acceptor variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 1 2016 2016
dbSNP: rs9309464
rs9309464 		1.000 0.080 2 72306834 intron variant A/G snv 0.38
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		Infections; Nervous System Diseases 0.010 1.000 1 2016 2016