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: rs863224946
rs863224946 		0.925 0.040 5 150125501 missense variant G/C snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		0.830 1.000 3 2017 2019
dbSNP: rs367543286
rs367543286 		0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		Neoplasms 0.800 1.000 4 2013 2017
dbSNP: rs397509381
rs397509381 		0.925 0.040 5 150124300 missense variant A/G snv
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.800 1.000 3 2013 2015
dbSNP: rs397509382
rs397509382 		0.925 0.040 5 150117796 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.800 1.000 3 2013 2015
dbSNP: rs1554108211
rs1554108211 		0.882 0.160 5 150124279 missense variant A/G snv
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 1 2015 2015
dbSNP: rs144050370
rs144050370 		0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		Neoplasms 0.800 0
dbSNP: rs367543286
rs367543286 		0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.730 1.000 4 2013 2018
dbSNP: rs864309711
rs864309711 		0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.720 1.000 3 2016 2019
dbSNP: rs1060499540
rs1060499540 		1.000 0.040 5 150120925 missense variant T/A;C snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499541
rs1060499541 		1.000 0.040 5 150126578 inframe insertion -/ATC ins
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499543
rs1060499543 		1.000 0.040 5 150125550 inframe deletion CCTTCC/- del
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2304058
rs2304058 		5 150128981 intron variant C/G snv 0.49
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3816018
rs3816018 		5 150128912 intron variant C/T snv 0.51
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3832325
rs3832325 		5 150119309 intron variant G/- delins
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3832325
rs3832325 		5 150119309 intron variant G/- delins
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs4705415
rs4705415 		5 150137672 intron variant G/A snv 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		Neoplasms 0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C0235162
Disease: Difficulty sleeping
Difficulty sleeping 		Mental Disorders 0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C0008301
Disease: Choking
Choking 		Respiratory Tract Diseases 0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C0233715
Disease: Speech impairment
Speech impairment 		0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy 		0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.700 0
dbSNP: rs138008832
rs138008832 		1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		Nervous System Diseases 0.700 0