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: 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: 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: rs864309711
rs864309711 		0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		Neoplasms 0.020 1.000 2 2016 2019
dbSNP: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 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: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs864309711
rs864309711 		0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs864309711
rs864309711 		0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C1302808
Disease: Myopericytoma
Myopericytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: rs864309711
rs864309711 		0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		Neoplasms 0.700 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: 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: rs367543286
rs367543286 		0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		Neoplasms 0.030 1.000 3 2013 2018
dbSNP: rs144050370
rs144050370 		0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs144050370
rs144050370 		0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs144050370
rs144050370 		0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs367543286
rs367543286 		0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs367543286
rs367543286 		0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
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: rs1554108211
rs1554108211 		0.882 0.160 5 150124279 missense variant A/G snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		Neoplasms 0.010 1.000 1 2019 2019