Disease: MYOFIBROMATOSIS, INFANTILE, 1 ×
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: 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: 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: 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: rs1554108389
rs1554108389 		0.925 0.040 5 150125553 missense variant T/C 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