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 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.800 1.000 20 1990 2014
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.800 1.000 4 1991 1999
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.700 1.000 3 1991 2008
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.700 0
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
13 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.010 1.000 1 2016 2016
Oculocutaneous albinism type 1
CUI: C0268494
Disease: Oculocutaneous albinism type 1
2 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.010 1.000 1 2001 2001
Yellow mutant oculocutaneous albinism
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
2 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.010 1.000 1 1991 1991