rs751122998, 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 11107394 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 1.000 3 2008 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
58 0.882 0.080 19 11107394 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 1.000 1 2008 2008
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
519 0.882 0.080 19 11107394 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 0