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: rs61753180
rs61753180
TYR ; LOC107984363
0.882 0.160 11 89178093 missense variant G/A snv 1.6E-04 2.8E-04
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		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: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0
dbSNP: rs553774660
rs553774660
TYR ; LOC107984363
1.000 0.040 11 89178097 missense variant G/T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2005 2005
dbSNP: rs61753181
rs61753181
TYR ; LOC107984363
1.000 0.160 11 89178102 stop gained C/G;T snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.700 1.000 4 1995 2015
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		0.700 0
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) 		0.700 0
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0
dbSNP: rs61753184
rs61753184
TYR ; LOC107984363
1.000 0.160 11 89178182 missense variant C/T snv 2.4E-05; 3.2E-05 6.3E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs61753185
rs61753185
TYR ; LOC107984363
0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.810 1.000 25 1990 2015
dbSNP: rs61753185
rs61753185
TYR ; LOC107984363
0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2017 2017
dbSNP: rs61753185
rs61753185
TYR ; LOC107984363
0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0
dbSNP: rs544053015
rs544053015
TYR ; LOC107984363
1.000 0.160 11 89178189 missense variant C/T snv 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs61753188
rs61753188
TYR ; LOC107984363
1.000 0.160 11 89178191 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.810 1.000 21 1990 2014
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.710 1.000 5 1990 2008
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C0001916
Disease: Albinism
Albinism 		0.700 1.000 1 1990 1990
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		0.010 1.000 1 1991 1991
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.700 0