LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
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: rs14158
rs14158
0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.030 1.000 3 2011 2013
dbSNP: rs5930
rs5930
0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.020 1.000 2 2009 2015
dbSNP: rs688
rs688
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.020 1.000 2 2019 2019
dbSNP: rs1433099
rs1433099
0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs2569540
rs2569540
1.000 0.080 19 11127563 non coding transcript exon variant C/G snv 0.68
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs5925
rs5925
0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs72658864
rs72658864
0.925 0.160 19 11116886 missense variant T/C snv 2.4E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2014 2014