Disease: Hypocholesterolemia ×
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: rs1272703401
rs1272703401 		1.000 0.040 1 55040049 splice region variant G/A snv 1.9E-05 7.7E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs745633457
rs745633457 		1.000 0.040 1 55052644 splice region variant G/A;T snv 8.0E-06
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28942111
rs28942111 		0.807 0.120 1 55044016 missense variant T/A snv
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2007 2007
dbSNP: rs11591147
rs11591147 		0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs137852912
rs137852912 		0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs143117125
rs143117125 		1.000 0.040 1 55046594 missense variant C/A snv 6.0E-05 6.3E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs148195424
rs148195424 		1.000 0.040 1 55052701 missense variant C/T snv 7.2E-04 6.5E-04
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs28362286
rs28362286 		0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28942112
rs28942112 		0.925 0.040 1 55052400 missense variant T/C snv
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs35605815
rs35605815 		0.925 0.040 1 55052407 frameshift variant -/T ins
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs67608943
rs67608943 		0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs970575319
rs970575319 		0.882 0.040 1 55052408 missense variant A/T snv
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007