RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18
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: rs75037667
rs75037667 		1.000 0.120 19 12813438 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 3 2006 2010
dbSNP: rs76436818
rs76436818 		1.000 0.120 19 12807328 missense variant C/A;G;T snv 2.4E-05; 1.2E-05
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 3 2006 2010
dbSNP: rs76857106
rs76857106 		1.000 0.120 19 12806782 missense variant G/A snv
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 3 2006 2010
dbSNP: rs77103971
rs77103971 		0.925 0.120 19 12810323 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 3 2006 2010
dbSNP: rs79767407
rs79767407 		1.000 0.120 19 12813135 missense variant C/A snv
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 3 2006 2010
dbSNP: rs77103971
rs77103971 		0.925 0.120 19 12810323 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 4 2007 2013
dbSNP: rs13345720
rs13345720 		1.000 0.040 19 12806872 non coding transcript exon variant T/C snv 0.12
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3786712
rs3786712 		19 12812911 intron variant A/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4804732
rs4804732 		19 12811689 intron variant A/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs549586181
rs549586181 		1.000 0.120 19 12807209 frameshift variant -/A delins 9.9E-05 4.5E-04
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs397515479
rs397515479 		1.000 0.120 19 12806748 synonymous variant C/T snv
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515480
rs397515480 		1.000 0.120 19 12806742 synonymous variant G/A snv 1.7E-05 7.0E-06
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs753679297
rs753679297 		1.000 0.120 19 12810324 missense variant G/A snv 4.0E-06
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs75718910
rs75718910 		1.000 0.120 19 12813149 missense variant G/A snv 1.6E-05
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs77672568
rs77672568 		1.000 0.120 19 12807212 frameshift variant -/G delins
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs78705193
rs78705193 		1.000 0.120 19 12813158 frameshift variant -/GC delins 4.0E-06 7.0E-06
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs79843600
rs79843600 		1.000 0.120 19 12813164 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1055679036
rs1055679036 		1.000 0.120 19 12800207 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs76857106
rs76857106 		1.000 0.120 19 12806782 missense variant G/A snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs76857106
rs76857106 		1.000 0.120 19 12806782 missense variant G/A snv
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		0.010 1.000 1 2016 2016
dbSNP: rs775414901
rs775414901 		1.000 0.080 19 12801169 synonymous variant C/G;T snv 3.6E-05
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004