LMAN1, lectin, mannose binding 1, 3998

N. diseases: 30; N. variants: 6
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: rs2298711
rs2298711 		18 59333237 missense variant T/A;C snv 0.12
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		0.700 1.000 1 2019 2019
dbSNP: rs121909253
rs121909253 		1.000 0.080 18 59359243 start lost A/G snv
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869312030
rs869312030 		1.000 0.080 18 59359155 frameshift variant -/C delins
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869312031
rs869312031 		1.000 0.080 18 59338758 splice donor variant A/G snv
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869312032
rs869312032 		1.000 0.080 18 59347539 frameshift variant G/- delins
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869312033
rs869312033 		1.000 0.080 18 59333109 frameshift variant G/- del
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0