TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
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: rs267607119
rs267607119 		0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 7 2007 2015
dbSNP: rs137853106
rs137853106 		1.000 0.280 8 93782456 missense variant A/C snv
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs137853107
rs137853107 		0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2007 2015
dbSNP: rs386834188
rs386834188 		1.000 0.280 8 93755075 missense variant A/G snv 7.0E-06
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs386834189
rs386834189 		1.000 0.280 8 93797372 missense variant T/C snv
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs386834194
rs386834194 		1.000 0.280 8 93808928 missense variant A/G snv 1.4E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs386834199
rs386834199 		1.000 0.280 8 93815437 missense variant T/C snv 4.0E-06
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs386834206
rs386834206 		1.000 0.280 8 93780612 missense variant C/T snv
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs386834208
rs386834208 		1.000 0.280 8 93780892 missense variant G/T snv 8.0E-06
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs762543032
rs762543032 		1.000 0.160 8 93755798 missense variant C/T snv 4.3E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2007 2015
dbSNP: rs772437766
rs772437766 		1.000 0.160 8 93755799 missense variant C/G;T snv 8.6E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2007 2015
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 2006 2010
dbSNP: rs267607114
rs267607114 		1.000 0.160 8 93793256 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 5 2007 2015
dbSNP: rs386834180
rs386834180 		0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 2006 2010
dbSNP: rs386834182
rs386834182 		0.925 0.360 8 93786253 missense variant G/A snv 6.0E-05 4.2E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 2006 2010
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: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.800 1.000 1 2009 2009
dbSNP: rs267607116
rs267607116 		0.851 0.160 8 93808861 missense variant G/A;C snv
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.800 1.000 1 2009 2009
dbSNP: rs267607117
rs267607117 		0.925 0.080 8 93780747 missense variant G/T snv
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.800 1.000 1 2009 2009
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