MIR6886, microRNA 6886, 102465534

N. diseases: 6; N. variants: 286
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: rs879254925
rs879254925
0.790 0.120 19 11113680 missense variant G/T snv
Familial hypercholesterolemia - heterozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs879254925
rs879254925
0.790 0.120 19 11113680 missense variant G/T snv
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 12 1990 2016
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
Familial hypercholesterolemia - homozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1990 2017
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2000 2011
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
Familial hypercholesterolemia - homozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2002
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis
Eye Diseases 0.700 0
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result
0.700 0
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922567
rs193922567
0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result
0.700 0
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs570942190
rs570942190
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 38 1989 2017
dbSNP: rs28942078
rs28942078
0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.840 1.000 35 1989 2017
dbSNP: rs570942190
rs570942190
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 25 1997 2016
dbSNP: rs28942078
rs28942078
0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.760 1.000 22 1989 2016
dbSNP: rs570942190
rs570942190
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
Familial hypercholesterolemia - homozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2017
dbSNP: rs730882102
rs730882102
0.827 0.120 19 11113590 missense variant G/A;T snv 5.6E-05 2.1E-05
Familial hypercholesterolemia - homozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 2008 2016
dbSNP: rs774439908
rs774439908
0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2015
dbSNP: rs879254838
rs879254838
0.827 0.120 19 11113314 missense variant A/C;T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2010 2012