Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.800 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.700 1.000 1 2015 2015
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1408258
Disease: Kidney damage
Kidney damage 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0264172
Disease: Barrel chest
Barrel chest 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0031154
Disease: Peritonitis
Peritonitis 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.700 0