rs111277962, HPS1

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.
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 1.000 0.160 10 98425641 missense variant C/A snv 0.010 1.000 1 2015 2015