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: rs80338777
rs80338777 		0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.810 1.000 16 1994 2012
dbSNP: rs28930068
rs28930068 		0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.800 1.000 14 1994 2018
dbSNP: rs80338777
rs80338777 		0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 1.000 10 1994 2012
dbSNP: rs28930069
rs28930069 		0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.820 1.000 8 1994 2010
dbSNP: rs28930068
rs28930068 		0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 1.000 7 1995 2015
dbSNP: rs80338778
rs80338778 		0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.710 1.000 7 1994 2010
dbSNP: rs3850625
rs3850625 		1 201047168 missense variant G/A snv 0.12 8.9E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 5 2016 2019
dbSNP: rs80338777
rs80338777 		0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.750 1.000 5 1996 2014
dbSNP: rs28930069
rs28930069 		0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 1.000 4 1994 2007
dbSNP: rs80338778
rs80338778 		0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.740 1.000 4 2005 2015
dbSNP: rs28930068
rs28930068 		0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 1995 2007
dbSNP: rs28930069
rs28930069 		0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2005 2007
dbSNP: rs3850625
rs3850625 		1 201047168 missense variant G/A snv 0.12 8.9E-02
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2016 2017
dbSNP: rs1800559
rs1800559 		0.925 0.080 1 201060815 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0009917
Disease: Contracture
Contracture 		Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1800559
rs1800559 		0.925 0.080 1 201060815 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2001 2001
dbSNP: rs184837031
rs184837031 		1 201111046 intron variant G/A;C snv
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2297902
rs2297902 		0.925 0.160 1 201065943 missense variant G/A;C snv 3.8E-02
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267606698
rs267606698 		0.925 0.160 1 201066917 missense variant A/T snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28930069
rs28930069 		0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28930069
rs28930069 		0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3820422
rs3820422 		1.000 0.040 1 201076345 intron variant A/G snv 0.25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs3850625
rs3850625 		1 201047168 missense variant G/A snv 0.12 8.9E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs4498834
rs4498834 		0.776 0.160 1 201111170 intron variant T/C snv 0.56
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4498834
rs4498834 		0.776 0.160 1 201111170 intron variant T/C snv 0.56
CUI: C0155922
Disease: Tooth development and eruption disorder
Tooth development and eruption disorder 		Mental Disorders; Stomatognathic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4498834
rs4498834 		0.776 0.160 1 201111170 intron variant T/C snv 0.56
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2018 2018