MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
Disease: Talipes cavus ×
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: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548 		0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019