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: rs121908923
rs121908923 		0.925 0.080 3 15453838 missense variant T/C;G snv 4.1E-06; 4.1E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 1998 2014
dbSNP: rs7609897
rs7609897 		0.925 0.080 3 15461174 intron variant G/T snv 0.22
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.710 1.000 2 2017 2018
dbSNP: rs7609897
rs7609897 		0.925 0.080 3 15461174 intron variant G/T snv 0.22
CUI: C0012813
Disease: Diverticulitis
Diverticulitis 		Digestive System Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1025361623
rs1025361623 		1.000 0.080 3 15453898 missense variant C/G;T snv 4.1E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 1998 2014
dbSNP: rs1057521153
rs1057521153 		1.000 0.080 3 15456524 missense variant A/G snv
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 1998 2014
dbSNP: rs139574075
rs139574075 		1.000 0.080 3 15453899 missense variant G/A;T snv 2.8E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2004 2015
dbSNP: rs375215281
rs375215281 		0.925 0.080 3 15451691 missense variant T/A;C snv 4.0E-06; 2.8E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2004 2012
dbSNP: rs769982050
rs769982050 		0.925 0.080 3 15456012 frameshift variant G/- delins 4.8E-05 9.8E-05
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2014
dbSNP: rs971863968
rs971863968 		1.000 0.080 3 15489586 frameshift variant -/G delins 4.0E-06 7.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2008 2013
dbSNP: rs1306593300
rs1306593300 		1.000 0.080 3 15453910 missense variant C/A;G snv 4.1E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs13100619
rs13100619 		3 15508460 intron variant A/C snv 3.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1559519107
rs1559519107 		1.000 0.080 3 15474240 frameshift variant G/- delins
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs185829251
rs185829251 		1.000 0.080 3 15453846 stop gained G/A;T snv 8.1E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs199470447
rs199470447 		1.000 0.080 3 15488308 splice acceptor variant C/T snv 8.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs104893733
rs104893733 		1.000 0.080 3 15470613 stop gained C/A snv 2.0E-05 7.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104893734
rs104893734 		1.000 0.080 3 15475447 stop gained G/C snv 4.3E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104893735
rs104893735 		1.000 0.080 3 15466437 stop gained C/A snv 4.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908922
rs121908922 		1.000 0.080 3 15458296 stop gained T/A;C snv 4.0E-06; 4.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908924
rs121908924 		1.000 0.080 3 15458197 stop gained G/A;T snv 1.6E-05; 4.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs143766249
rs143766249 		1.000 0.080 3 15478991 stop gained G/A;C snv 5.2E-05; 4.4E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1559510978
rs1559510978 		1.000 0.080 3 15453901 frameshift variant -/G delins
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs758554049
rs758554049 		1.000 0.080 3 15456508 missense variant G/C;T snv 8.0E-06; 1.2E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs759911990
rs759911990 		1.000 0.080 3 15466366 frameshift variant -/G delins 1.4E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs769982050
rs769982050 		0.925 0.080 3 15456012 frameshift variant G/- delins 4.8E-05 9.8E-05
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs770045897
rs770045897 		1.000 0.080 3 15470574 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0