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: rs28942109
rs28942109
0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 5 2003 2009
dbSNP: rs121917846
rs121917846
1.000 0.120 5 134621002 splice acceptor variant C/T snv
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2009
dbSNP: rs28942110
rs28942110
1.000 0.120 5 134607010 missense variant A/T snv 2.0E-05 7.0E-06
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2009
dbSNP: rs1254114609
rs1254114609
1.000 0.120 5 134612711 missense variant T/C snv
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853125
rs137853125
1.000 0.120 5 134608488 stop gained C/A snv 2.0E-05
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853126
rs137853126
1.000 0.120 5 134606993 missense variant C/A snv 7.0E-06
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28942109
rs28942109
0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28942109
rs28942109
0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009