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: 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
0.800 1.000 0 2006 2010
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 0 2009 2009
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
0.800 1.000 0 2009 2017
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 1999 2016
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 10 1999 2016
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 10 1999 2016
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 10 1999 2016
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.700 1.000 7 2009 2015
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.700 1.000 7 2009 2015
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6
0.700 1.000 1 2015 2015
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.700 1.000 1 2011 2011
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0264172
Disease: Barrel chest
Barrel chest
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
Congenital ocular coloboma (disorder)
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0031154
Disease: Peritonitis
Peritonitis
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1408258
Disease: Kidney damage
Kidney damage
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
0.700 0
dbSNP: rs201893408
rs201893408
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0042798
Disease: Low Vision
Low Vision
0.700 0