CTU2, cytosolic thiouridylase subunit 2, 348180

N. diseases: 38; N. variants: 7
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: rs587776988
rs587776988 		1.000 0.200 16 88715804 missense variant C/T snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs577860843
rs577860843 		1.000 16 88715799 missense variant A/G snv 9.0E-05 7.0E-06
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 1.000 1 2015 2015
dbSNP: rs61745086
rs61745086 		16 88715642 missense variant G/A snv 7.2E-03 7.3E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8052560
rs8052560 		16 88710834 non coding transcript exon variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs8052560
rs8052560 		16 88710834 non coding transcript exon variant C/A;T snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs587776992
rs587776992 		1.000 0.200 16 88715683 inframe insertion AGCTCC/-;AGCTCCAGCTCC delins
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs749288233
rs749288233 		0.925 0.200 16 88715708 missense variant C/T snv 6.4E-06
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs769481947
rs769481947 		1.000 16 88713447 splice region variant G/A;T snv 9.3E-06; 4.6E-06
CUI: C4748348
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		0.700 0
dbSNP: rs749288233
rs749288233 		0.925 0.200 16 88715708 missense variant C/T snv 6.4E-06
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013