ANKRD1, ankyrin repeat domain 1, 27063

N. diseases: 65; N. variants: 4
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: rs142354133
rs142354133 		1.000 0.120 10 90918971 missense variant G/A snv 1.5E-04 1.6E-04
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
Total Anomalous Pulmonary Venous Return 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs397517251
rs397517251 		10 90916262 missense variant G/A snv 5.9E-04 1.5E-04
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs755661906
rs755661906 		1.000 0.040 10 90917732 missense variant C/T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs776270017
rs776270017 		1.000 0.080 10 90920283 synonymous variant T/C snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012