LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hypercholesterolemia, Familial ×
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: rs989307060
rs989307060 		1.000 0.080 19 11089263 upstream gene variant C/G snv 2.8E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555800611
rs1555800611 		1.000 0.080 19 11089319 upstream gene variant GGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCC/- delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555800620
rs1555800620 		1.000 0.080 19 11089356 upstream gene variant CTCCTCC/TG delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs878854023
rs878854023 		1.000 0.080 19 11089361 upstream gene variant C/T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879254363
rs879254363 		1.000 0.080 19 11089363 upstream gene variant CTT/- delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1555800629
rs1555800629 		1.000 0.080 19 11089377 upstream gene variant G/A snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879254364
rs879254364 		1.000 0.080 19 11089393 upstream gene variant 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 1 2004 2004
dbSNP: rs879254365
rs879254365 		1.000 0.080 19 11089394 upstream gene variant AC/TTCTGCAAACTCCT delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs879254367
rs879254367 		1.000 0.080 19 11089397 upstream gene variant 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 1999 2006
dbSNP: rs1555800631
rs1555800631 		1.000 0.080 19 11089398 upstream gene variant C/G snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555800632
rs1555800632 		1.000 0.080 19 11089399 upstream gene variant A/G snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879254370
rs879254370 		1.000 0.080 19 11089407 upstream gene variant C/G;T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs875989887
rs875989887 		0.925 0.080 19 11089409 upstream gene variant C/A;G;T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2011
dbSNP: rs879254371
rs879254371 		1.000 0.080 19 11089410 upstream gene variant C/A;G snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs387906307
rs387906307 		0.925 0.080 19 11089411 upstream gene variant T/- del
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs879254372
rs879254372 		1.000 0.080 19 11089411 upstream gene variant T/C snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1995 1995
dbSNP: rs879254374
rs879254374 		1.000 0.080 19 11089413 upstream gene variant C/G;T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1994 2011
dbSNP: rs879254375
rs879254375 		0.925 0.080 19 11089414 upstream gene variant C/A;G snv 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 7 1992 2011
dbSNP: rs777716188
rs777716188 		1.000 0.080 19 11089428 upstream gene variant T/C snv 2.8E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2012
dbSNP: rs875989886
rs875989886 		1.000 0.080 19 11089429 upstream gene variant C/T snv 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 2 2004 2009
dbSNP: rs747068848
rs747068848 		1.000 0.080 19 11089448 upstream gene variant T/C snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555800648
rs1555800648 		1.000 0.080 19 11089451 upstream gene variant C/T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs944580031
rs944580031 		1.000 0.080 19 11089452 upstream gene variant G/A;C snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879254382
rs879254382 		0.882 0.080 19 11089549 start lost A/C;G;T snv
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1996 2008
dbSNP: rs875989888
rs875989888 		1.000 0.080 19 11089551 frameshift variant G/- delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1997 2013