rs879254382, LDLR

N. diseases: 3
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 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.700 1.000 7 1996 2008
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
9 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.010 1.000 1 2019 2019