rs281865081, HPS1

N. diseases: 2
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.
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
9 0.925 0.200 10 98427240 frameshift variant C/-;CC delins 0.700 0
Hermanski-Pudlak Syndrome
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
59 0.925 0.200 10 98427240 frameshift variant C/-;CC delins 0.700 0