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
28 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 11 1993 2016
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
18 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 2 2014 2015
Oculocutaneous albinism type 1
CUI: C0268494
Disease: Oculocutaneous albinism type 1
87 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 2 2014 2015
Nystagmus
CUI: C0028738
Disease: Nystagmus
33 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015
Myopia
CUI: C0027092
Disease: Myopia
48 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015
Albinism
CUI: C0001916
Disease: Albinism
16 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
2 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
3 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015