MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Neurofibromatosis 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: rs587778967
rs587778967 		0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs63750899
rs63750899 		0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs63751615
rs63751615 		0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs773647920
rs773647920 		1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009