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: rs755104973
rs755104973 		1.000 0.040 1 25553921 splice acceptor variant G/C snv 4.0E-06
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2004
dbSNP: rs781585299
rs781585299 		1.000 0.040 1 25563135 frameshift variant -/C;CC delins 1.4E-05
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.700 1.000 4 2002 2012
dbSNP: rs121908325
rs121908325 		1.000 0.040 1 25557214 stop gained C/T snv 7.0E-06
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2016
dbSNP: rs1201229554
rs1201229554 		1.000 0.040 1 25543763 frameshift variant G/- delins 7.0E-06
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs12096438
rs12096438 		1 25562931 non coding transcript exon variant C/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12096438
rs12096438 		1 25562931 non coding transcript exon variant C/A;T snv
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs75446219
rs75446219 		1 25551001 intron variant C/T snv 2.0E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs386629678
rs386629678 		1.000 0.040 1 25563141 missense variant TC/CA mnv
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1019504966
rs1019504966 		1.000 0.040 1 25543699 start lost A/G snv 1.4E-05
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908324
rs121908324 		1.000 0.040 1 25543763 stop gained G/A;C;T snv
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs4075184
rs4075184 		1.000 0.080 1 25564344 non coding transcript exon variant G/A snv 0.52
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs6687605
rs6687605 		1.000 0.080 1 25563141 missense variant T/A;C;G snv 1.6E-05; 0.51; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs752849346
rs752849346 		0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs752849346
rs752849346 		0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs752849346
rs752849346 		0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010