rs201893408, TMEM67

N. diseases: 28
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
39 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.800 1.000 5 2006 2010
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.800 1.000 3 2009 2017
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
6 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.800 1.000 1 2009 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 7 2009 2015
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 7 2009 2015
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 1 2015 2015
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 1 2011 2011
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Barrel chest
CUI: C0264172
Disease: Barrel chest
2 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Cerebellar malformation
CUI: C4025708
Disease: Cerebellar malformation
3 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Kidney damage
CUI: C1408258
Disease: Kidney damage
6 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
Peritonitis
CUI: C0031154
Disease: Peritonitis
2 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0