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: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 19 2002 2014
dbSNP: rs121909254
rs121909254 		0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 10 2002 2009
dbSNP: rs104894293
rs104894293 		1.000 11 47441675 missense variant A/G snv 4.1E-05 5.6E-05
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 9 2002 2007
dbSNP: rs104894294
rs104894294 		1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 9 2002 2007
dbSNP: rs104894300
rs104894300 		1.000 11 47448924 missense variant A/G snv 8.0E-06
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 9 2002 2007
dbSNP: rs121909255
rs121909255 		0.925 0.080 11 47447859 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 9 2002 2007
dbSNP: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.750 1.000 9 2003 2017
dbSNP: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 13 2002 2011
dbSNP: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 2002 2014
dbSNP: rs786200905
rs786200905 		0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2003 2012
dbSNP: rs786200905
rs786200905 		0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 1.000 5 2003 2012
dbSNP: rs121909254
rs121909254 		0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2007 2009
dbSNP: rs7103648
rs7103648 		11 47440232 intron variant A/G snv 0.31
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2016 2017
dbSNP: rs7103648
rs7103648 		11 47440232 intron variant A/G snv 0.31
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2016 2017
dbSNP: rs12419342
rs12419342 		1.000 0.040 11 47446993 intron variant C/T snv 0.61
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2014 2014
dbSNP: rs34312154
rs34312154 		11 47448793 missense variant G/A snv 0.10 8.9E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3740685
rs3740685 		11 47447239 intron variant C/T snv 0.59
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3740685
rs3740685 		11 47447239 intron variant C/T snv 0.59
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: rs3740685
rs3740685 		11 47447239 intron variant C/T snv 0.59
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs375218091
rs375218091 		1.000 0.080 11 47448071 missense variant C/A;T snv 1.6E-05; 8.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs375218091
rs375218091 		1.000 0.080 11 47448071 missense variant C/A;T snv 1.6E-05; 8.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs3824867
rs3824867 		11 47447017 intron variant A/G snv 0.59
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3824867
rs3824867 		11 47447017 intron variant A/G snv 0.59
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs7104036
rs7104036 		1.000 0.040 11 47440589 intron variant A/G snv 0.31
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7104036
rs7104036 		1.000 0.040 11 47440589 intron variant A/G snv 0.31
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018