Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1096099
Disease: Iris transillumination defect
Iris transillumination defect 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		0.700 0
dbSNP: rs61753177
rs61753177
TYR ; LOC107984363
1.000 0.160 11 89178010 missense variant T/A;C snv 1.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs61753178
rs61753178
TYR ; LOC107984363
1.000 0.160 11 89178014 missense variant C/T snv 3.6E-05 1.4E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs1057518763
rs1057518763
TYR ; LOC107984363
1.000 0.160 11 89178026 frameshift variant -/T delins 7.0E-06
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.700 0
dbSNP: rs1555083355
rs1555083355
TYR ; LOC107984363
1.000 0.160 11 89178054 missense variant A/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61753179
rs61753179
TYR ; LOC107984363
1.000 0.160 11 89178060 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs28940878
rs28940878
TYR ; LOC107984363
1.000 0.160 11 89178078 missense variant A/G snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs755700581
rs755700581
TYR ; LOC107984363
1.000 0.160 11 89178085 missense variant T/A snv 2.0E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61753180
rs61753180
TYR ; LOC107984363
0.882 0.160 11 89178093 missense variant G/A snv 1.6E-04 2.8E-04
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.810 1.000 21 1990 2014
dbSNP: rs61753180
rs61753180
TYR ; LOC107984363
0.882 0.160 11 89178093 missense variant G/A snv 1.6E-04 2.8E-04
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) 		0.700 0