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 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.730 0.909 11 1993 2016
Abnormal pigmentation
CUI: C1260926
Disease: Abnormal pigmentation
5 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
Abnormality of hair pigmentation
CUI: C4024172
Disease: Abnormality of hair pigmentation
2 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
13 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.700 0