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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C4310661
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 		0.700 0