TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: COACH 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: rs137853107
rs137853107 		0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2009 2017
dbSNP: rs267607115
rs267607115 		0.925 0.280 8 93795503 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2009 2017
dbSNP: rs267607119
rs267607119 		0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2009 2017
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2009 2017
dbSNP: rs386834180
rs386834180 		0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2009 2017
dbSNP: rs752362727
rs752362727 		0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs863225235
rs863225235 		0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs1490496033
rs1490496033 		1.000 0.200 8 93758565 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs386834182
rs386834182 		0.925 0.360 8 93786253 missense variant G/A snv 6.0E-05 4.2E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs750950408
rs750950408 		0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs777137476
rs777137476 		1.000 0.200 8 93804784 missense variant A/G snv 8.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs797046045
rs797046045 		0.925 0.280 8 93755851 missense variant G/T snv 7.4E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs863225225
rs863225225 		0.925 0.280 8 93797184 missense variant C/A snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs863225226
rs863225226 		0.925 0.280 8 93758559 missense variant C/G snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs863225227
rs863225227 		0.925 0.280 8 93780647 missense variant A/G snv 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs863225228
rs863225228 		0.925 0.280 8 93787884 missense variant C/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs749435317
rs749435317 		0.882 0.280 8 93786287 frameshift variant A/- del
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1554615516
rs1554615516 		1.000 0.200 8 93763874 stop gained C/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs202149403
rs202149403 		0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs758948621
rs758948621 		0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200867
rs786200867 		0.925 0.280 8 93808957 splice donor variant G/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200868
rs786200868 		1.000 0.200 8 93755871 splice region variant G/A snv 7.1E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863225231
rs863225231 		0.925 0.280 8 93782455 missense variant C/G snv 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863225232
rs863225232 		0.925 0.280 8 93782402 missense variant C/T snv 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863225233
rs863225233 		0.925 0.280 8 93815365 missense variant T/G snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0