CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
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: rs28935480
rs28935480 		1.000 0.080 X 47626820 missense variant C/A snv
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 5 1996 2019
dbSNP: rs132630259
rs132630259 		0.925 0.080 X 47628207 missense variant G/A snv
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 5 1996 2019
dbSNP: rs132630261
rs132630261 		0.925 0.080 X 47626062 missense variant A/C;G snv
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 5 1996 2019
dbSNP: rs132630258
rs132630258 		1.000 0.080 X 47627564 stop gained G/A snv
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs132630259
rs132630259 		0.925 0.080 X 47628207 missense variant G/A snv
CUI: C1839455
Disease: Properdin Deficiency, Type II
Properdin Deficiency, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs132630260
rs132630260 		1.000 0.080 X 47627290 stop gained G/C snv
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs132630261
rs132630261 		0.925 0.080 X 47626062 missense variant A/C;G snv
CUI: C1839456
Disease: Properdin Deficiency, Type III
Properdin Deficiency, Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1048118
rs1048118 		1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs747581281
rs747581281 		X 47624319 missense variant G/C snv 3.3E-05
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2018 2018