TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel syndrome type 3 ×
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: 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: 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: 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: 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: 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 0.700 1.000 5 2006 2010
dbSNP: rs386834183
rs386834183 		1.000 0.280 8 93786256 missense variant G/A;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 0.700 1.000 5 2006 2010
dbSNP: rs386834193
rs386834193 		1.000 0.280 8 93804796 missense variant G/A;T snv 8.0E-06; 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 0.700 1.000 5 2006 2010
dbSNP: rs386834200
rs386834200 		1.000 0.280 8 93758552 frameshift variant AC/- delins
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 0.700 1.000 1 2007 2007
dbSNP: rs137853108
rs137853108 		0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-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 0.700 0
dbSNP: rs199821258
rs199821258 		0.925 0.320 8 93765648 splice donor variant T/G snv 5.6E-05 2.8E-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 0.700 0
dbSNP: rs202149403
rs202149403 		0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-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 0.700 0
dbSNP: rs267607119
rs267607119 		0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-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 0.700 0
dbSNP: rs386834181
rs386834181 		1.000 0.280 8 93781744 splice donor variant G/- delins
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 0.700 0
dbSNP: rs386834184
rs386834184 		1.000 0.280 8 93786270 missense variant G/C;T 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 0.700 0
dbSNP: rs386834185
rs386834185 		0.882 0.320 8 93787843 splice acceptor variant G/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 0.700 0
dbSNP: rs386834186
rs386834186 		1.000 0.280 8 93791280 frameshift variant AT/- delins
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 0.700 0
dbSNP: rs386834187
rs386834187 		1.000 0.280 8 93791320 splice donor variant G/A 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 0.700 0
dbSNP: rs386834190
rs386834190 		1.000 0.280 8 93755776 splice acceptor variant A/- del 9.6E-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 0.700 0
dbSNP: rs386834191
rs386834191 		1.000 0.280 8 93803662 frameshift variant T/- delins
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 0.700 0