rs879254582, LDLR

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.700 1.000 1 2004 2004
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2018 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2018 2018
Epidermolysis Bullosa
CUI: C0014527
Disease: Epidermolysis Bullosa
3 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2012 2012