Source: CLINVAR ×
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.
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
58 0.925 0.080 19 11113530 splice region variant C/G snv 1.2E-05 3.5E-05 0.700 1.000 2 2009 2014
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1340 0.925 0.080 19 11113530 splice region variant C/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2009 2009