rs144812594, OCA2

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.
Oculocutaneous albinism type 2
CUI: C0268495
Disease: Oculocutaneous albinism type 2
58 0.925 0.160 15 27986615 missense variant G/A snv 6.4E-05 2.3E-04 0.800 1.000 11 1994 2013
Albinism
CUI: C0001916
Disease: Albinism
27 0.925 0.160 15 27986615 missense variant G/A snv 6.4E-05 2.3E-04 0.010 1.000 1 2014 2014