HCFC1, host cell factor C1, 3054

N. diseases: 100; N. variants: 7
Disease: MENTAL RETARDATION, X-LINKED 3 ×
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: rs318240758
rs318240758 		1.000 0.080 X 153963263 missense variant C/T snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs397515485
rs397515485 		1.000 0.080 X 153964283 missense variant G/A;C snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397515486
rs397515486 		0.925 0.200 X 153964702 missense variant G/A snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397515487
rs397515487 		1.000 0.080 X 153964703 missense variant C/T snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs398122908
rs398122908 		1.000 0.080 X 153971810 5 prime UTR variant A/G snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs869312686
rs869312686 		0.882 0.120 X 153952053 missense variant G/C;T snv
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0