AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777392
rs587777392 		1.000 1 109630697 missense variant G/C snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs587777394
rs587777394 		1.000 1 109630740 missense variant G/T snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs587777395
rs587777395 		1.000 1 109629487 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs1553230375
rs1553230375 		1.000 1 109630690 stop lost T/G snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs192669225
rs192669225 		0.925 0.040 1 109628692 missense variant G/A snv
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.700 0
dbSNP: rs192669225
rs192669225 		0.925 0.040 1 109628692 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs192669225
rs192669225 		0.925 0.040 1 109628692 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs587777391
rs587777391 		1.000 1 109628725 frameshift variant G/- delins
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs587777393
rs587777393 		1.000 1 109627453 stop gained C/A snv 4.0E-06
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs875989844
rs875989844 		1.000 1 109630343 stop gained C/G snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C4086945
Disease: Ventilatory Threshold
Ventilatory Threshold 		0.010 1.000 1 2008 2008
dbSNP: rs867317000
rs867317000 		1 109628710 missense variant G/A snv 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000