rs781585299, LDLRAP1

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, AUTOSOMAL RECESSIVE
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
9 1.000 0.040 1 25563135 frameshift variant -/C;CC delins 1.4E-05 0.700 1.000 4 2002 2012