Source: UNIPROT

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: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs104894315
rs104894315
TYR ; LOC107984363
1.000 0.160 11 89227932 missense variant C/A;T snv 4.0E-06; 6.8E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs104894316
rs104894316
TYR ; LOC107984363
0.925 0.160 11 89284797 missense variant G/A;T snv 4.0E-06; 3.6E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs104894318
rs104894318
TYR ; LOC107984363
1.000 0.160 11 89284930 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs1362285246
rs1362285246
TYR ; LOC107984363
1.000 0.160 11 89284865 missense variant T/A;C snv 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs137854890
rs137854890
TYR ; LOC107984363
1.000 0.160 11 89178225 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs151206295
rs151206295
TYR ; LOC107984363
1.000 0.160 11 89227850 missense variant C/G;T snv 1.6E-05; 1.4E-04
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs281865325
rs281865325
TYR ; LOC107984363
0.925 0.160 11 89284880 missense variant C/A;T snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.710 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: 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: rs28940880
rs28940880
TYR ; LOC107984363
1.000 0.160 11 89178569 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
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: 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: 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: 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: rs61753252
rs61753252
TYR ; LOC107984363
1.000 0.160 11 89178242 missense variant G/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs61753259
rs61753259
TYR ; LOC107984363
1.000 0.160 11 89178479 missense variant T/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs61754393
rs61754393
TYR ; LOC107984363
0.882 0.160 11 89284853 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs752344007
rs752344007
TYR ; LOC107984363
1.000 0.160 11 89227970 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: rs774670098
rs774670098
TYR ; LOC107984363
1.000 0.160 11 89178668 missense variant C/A;T snv 8.0E-06; 2.8E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs1050708792
rs1050708792
TYR
1.000 0.160 11 89295245 missense variant C/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs138487695
rs138487695
TYR ; LOC107984363
1.000 0.160 11 89178482 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 0
dbSNP: rs61754363
rs61754363
TYR ; LOC107984363
1.000 0.160 11 89178599 missense variant T/A;C snv 1.6E-05; 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.810 1.000 0 1993 1993
dbSNP: rs61754365
rs61754365
TYR ; LOC107984363
0.925 0.160 11 89178603 missense variant G/A;C;T snv 2.6E-04; 1.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 0
dbSNP: rs61754367
rs61754367
TYR ; LOC107984363
1.000 0.160 11 89178660 stop gained G/A;C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 0