rs74653330, OCA2

N. diseases: 5
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.
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.700 1.000 1 2018 2018
Oculocutaneous albinism type 2
CUI: C0268495
Disease: Oculocutaneous albinism type 2
58 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.700 0
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
6 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.010 1.000 1 2011 2011
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.010 1.000 1 2011 2011
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.010 1.000 1 2014 2014