RNASEH2C, ribonuclease H2 subunit C, 84153

N. diseases: 120; N. variants: 11
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: rs78635798
rs78635798 		0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 5 2006 2018
dbSNP: rs75328625
rs75328625 		1.000 0.120 11 65720721 missense variant C/T snv 4.6E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs773527127
rs773527127 		1.000 0.120 11 65720644 missense variant C/A;T snv 1.1E-05; 5.5E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs78464826
rs78464826 		1.000 0.120 11 65720062 missense variant G/A snv 4.0E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs4645933
rs4645933 		0.925 0.120 11 65717649 3 prime UTR variant C/T snv 0.28
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4645933
rs4645933 		0.925 0.120 11 65717649 3 prime UTR variant C/T snv 0.28
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs12576766
rs12576766 		11 65721085 upstream gene variant C/T snv 0.32
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs4645915
rs4645915 		11 65714051 non coding transcript exon variant T/A;C snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs4645915
rs4645915 		11 65714051 non coding transcript exon variant T/A;C snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs75601653
rs75601653 		11 65715899 intron variant C/A;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs75146158
rs75146158 		1.000 0.120 11 65720085 missense variant T/A;C snv 8.0E-06; 8.0E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs76091978
rs76091978 		1.000 0.120 11 65720363 missense variant G/A snv 8.0E-06
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs772940104
rs772940104 		1.000 0.120 11 65720411 frameshift variant -/C delins
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs78635798
rs78635798 		0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs78635798
rs78635798 		0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2009 2018