LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Serum LDL cholesterol measurement ×
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: rs6511720
rs6511720 		0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 10 2008 2013
dbSNP: rs2228671
rs2228671 		0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2008 2012
dbSNP: rs17242787
rs17242787 		19 11091784 intron variant T/A snv 6.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17248720
rs17248720 		19 11087511 upstream gene variant C/T snv 0.16
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs688
rs688 		0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17249141
rs17249141 		19 11089332 upstream gene variant C/T snv 3.3E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2569559
rs2569559 		19 11103857 non coding transcript exon variant T/A;G snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2738446
rs2738446 		19 11116650 intron variant C/A;G snv 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2738450
rs2738450 		19 11118289 intron variant C/A snv 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2738452
rs2738452 		19 11118542 intron variant A/G snv 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4804144
rs4804144 		19 11125504 intron variant C/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742911
rs5742911 		19 11132769 3 prime UTR variant A/G snv 0.27
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5925
rs5925 		0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5930
rs5930 		0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6413504
rs6413504 		19 11131239 intron variant A/G snv 0.45 0.39
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6511721
rs6511721 		19 11095899 intron variant G/A snv 0.63
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8102912
rs8102912 		19 11095299 intron variant G/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8110695
rs8110695 		19 11095854 intron variant T/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012