MTMR14, myotubularin related protein 14, 64419

N. diseases: 61; N. variants: 2
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: rs121434509
rs121434509 		1.000 0.080 3 9684627 missense variant G/A snv 8.0E-06
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121434510
rs121434510 		1.000 0.080 3 9689034 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121434509
rs121434509 		1.000 0.080 3 9684627 missense variant G/A snv 8.0E-06
CUI: C4017237
Disease: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 		0.700 0
dbSNP: rs121434510
rs121434510 		1.000 0.080 3 9689034 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C4017237
Disease: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 		0.700 0