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: 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: 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: 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: 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: rs763794604
rs763794604 		1 201077069 missense variant C/A;T snv 2.4E-05 4.2E-05
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs797045031
rs797045031 		1.000 1 201058493 splice acceptor variant T/C snv
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 1.000 1 2016 2016
dbSNP: rs1553252746
rs1553252746 		1.000 1 201091770 frameshift variant G/- delins
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs1553252746
rs1553252746 		1.000 1 201091770 frameshift variant G/- delins
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1558056376
rs1558056376 		1.000 1 201050983 splice donor variant C/G;T snv
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs1558056376
rs1558056376 		1.000 1 201050983 splice donor variant C/G;T snv
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1558071742
rs1558071742 		1.000 1 201076951 frameshift variant T/- delins
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs1558071742
rs1558071742 		1.000 1 201076951 frameshift variant T/- delins
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs201998231
rs201998231 		1.000 1 201092011 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs201998231
rs201998231 		1.000 1 201092011 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs28986463
rs28986463 		1.000 1 201060591 intron variant T/C snv
CUI: C2749982
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs550371466
rs550371466 		1.000 1 201041534 stop gained G/A;T snv 9.2E-05; 4.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs550371466
rs550371466 		1.000 1 201041534 stop gained G/A;T snv 9.2E-05; 4.0E-06
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs762294904
rs762294904 		1.000 1 201077995 stop gained G/A;T snv 8.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs762294904
rs762294904 		1.000 1 201077995 stop gained G/A;T snv 8.0E-06
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
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: 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: rs1800559
rs1800559 		0.925 0.080 1 201060815 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 0
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: 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