MIR6886, microRNA 6886, 102465534

N. diseases: 6; N. variants: 286
Disease: Familial hypercholesterolemia - homozygous ×
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: rs570942190
rs570942190 		0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2017
dbSNP: rs144614838
rs144614838 		0.882 0.080 19 11113608 missense variant G/A;T snv 2.8E-05 2.8E-05
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 12 1992 2017
dbSNP: rs139617694
rs139617694 		0.851 0.080 19 11113534 splice acceptor variant G/A;C snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 1995 2016
dbSNP: rs137943601
rs137943601 		0.851 0.120 19 11113313 missense variant G/A;C snv 8.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1992 2015
dbSNP: rs28942080
rs28942080 		0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1990 2017
dbSNP: rs730882102
rs730882102 		0.827 0.120 19 11113590 missense variant G/A;T snv 5.6E-05 2.1E-05
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 2008 2016
dbSNP: rs879254867
rs879254867 		0.882 0.080 19 11113420 stop gained G/A;C;T snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1992 2012
dbSNP: rs193922567
rs193922567 		0.807 0.120 19 11113451 splice donor variant T/A;C snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2002
dbSNP: rs875989916
rs875989916 		0.882 0.080 19 11111568 frameshift variant -/GTGG delins
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1992 2006
dbSNP: rs531005522
rs531005522 		0.925 0.080 19 11113530 splice region variant C/G snv 1.2E-05 3.5E-05
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2014
dbSNP: rs876657697
rs876657697 		0.925 0.080 19 11113599 frameshift variant -/C delins
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2001
dbSNP: rs28942078
rs28942078 		0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs875989915
rs875989915 		0.882 0.080 19 11111526 missense variant G/A snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs875989921
rs875989921 		0.882 0.080 19 11113624 stop gained G/A;T snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879254907
rs879254907 		0.882 0.080 19 11113625 stop gained G/A;C;T snv
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017