rs879254620, LDLR

N. diseases: 1
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 1.000 0.080 19 11105565 protein altering variant -/CTGCAAGGACAAATCTGACGA delins 0.700 1.000 6 1992 2007