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: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C4310661
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0085639
Disease: Falls
Falls 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0