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.
Abnormality of metabolism/homeostasis
5 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Choroidal Neovascularization
CUI: C0600518
Disease: Choroidal Neovascularization
3 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Foveal hypoplasia (finding)
CUI: C2673946
Disease: Foveal hypoplasia (finding)
4 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Hypopigmentation of hair
CUI: C3278401
Disease: Hypopigmentation of hair
1 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Iris transillumination defect
CUI: C1096099
Disease: Iris transillumination defect
1 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
13 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
Slow decrease in visual acuity
CUI: C1853141
Disease: Slow decrease in visual acuity
3 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0