rs121918167, OCA2

N. diseases: 4
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 27871170 missense variant G/A snv 1.1E-04 2.2E-04 0.800 1.000 16 1994 2017
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.925 0.160 15 27871170 missense variant G/A snv 1.1E-04 2.2E-04 0.700 1.000 1 2018 2018
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
9 0.925 0.160 15 27871170 missense variant G/A snv 1.1E-04 2.2E-04 0.700 0
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.925 0.160 15 27871170 missense variant G/A snv 1.1E-04 2.2E-04 0.010 1.000 1 2000 2000