AK2, adenylate kinase 2, 204

N. diseases: 54; N. variants: 9
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: rs267606648
rs267606648 		1.000 0.160 1 33021616 missense variant G/A;C;T snv 8.0E-06
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2009 2017
dbSNP: rs267606643
rs267606643 		1.000 0.160 1 33014526 missense variant T/C snv
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs137853206
rs137853206 		1.000 0.160 1 33036828 start lost T/C snv 9.6E-06
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553150995
rs1553150995 		1.000 0.160 1 33013378 frameshift variant G/- del
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553151177
rs1553151177 		1.000 0.160 1 33014567 frameshift variant G/- delins
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606645
rs267606645 		1.000 0.160 1 33013345 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606646
rs267606646 		1.000 0.160 1 33013204 stop gained T/A snv
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606647
rs267606647 		1.000 0.160 1 33036804 stop gained C/A;T snv 5.6E-04
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906581
rs387906581 		1.000 0.160 1 33024543 frameshift variant A/- del
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0