TMEM165, transmembrane protein 165, 55858

N. diseases: 37; N. variants: 18
Disease: Carbohydrate deficient glycoprotein syndrome type 2k ×
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: rs387907221
rs387907221 		1.000 0.120 4 55411783 missense variant G/A snv
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2012 2013
dbSNP: rs886037631
rs886037631 		1.000 0.120 4 55425387 missense variant G/A snv
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2012 2013
dbSNP: rs387907222
rs387907222 		1.000 0.120 4 55411782 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2012 2013
dbSNP: rs793888506
rs793888506 		1.000 0.120 4 55418167 splice region variant G/A snv
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0