rs875989926, LDLR

N. diseases: 3
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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1340 0.882 0.080 19 11116213 splice donor variant G/A;C;T snv 0.700 1.000 9 1995 2010
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
58 0.882 0.080 19 11116213 splice donor variant G/A;C;T snv 0.700 1.000 6 1999 2016
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
519 0.882 0.080 19 11116213 splice donor variant G/A;C;T snv 0.700 0