Disease: Sitosterolemia ×
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: rs137852988
rs137852988 		1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852990
rs137852990 		1.000 0.120 2 43852692 missense variant G/A snv 1.4E-04 6.3E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852992
rs137852992 		1.000 0.120 2 43877591 missense variant T/G snv 7.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852993
rs137852993 		1.000 0.120 2 43852483 missense variant C/A snv 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs201690654
rs201690654 		1.000 0.120 2 43875286 missense variant G/T snv 2.1E-04 1.8E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs34754243
rs34754243 		1.000 0.120 2 43852616 missense variant G/A snv 8.9E-04 9.8E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs766212636
rs766212636 		1.000 0.120 2 43851812 missense variant G/A snv 2.0E-05 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs769576789
rs769576789 		1.000 0.120 2 43875372 missense variant T/C snv 9.6E-05 9.1E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs957176669
rs957176669 		1.000 0.120 2 43871975 splice acceptor variant G/A;C snv 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1177309800
rs1177309800 		1.000 0.120 2 43873789 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1233989408
rs1233989408 		1.000 0.120 2 43875159 missense variant T/C snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1325979386
rs1325979386 		1.000 0.120 2 43875378 missense variant G/A snv 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs758551848
rs758551848 		1.000 0.120 2 43831834 stop gained C/A;G snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137854891
rs137854891 		1.000 0.120 2 43846309 stop gained C/G snv 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004