Source: BEFREE

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: 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 1 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: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.810 1.000 1 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 1 1990 2015
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 1 1993 1993
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0025202
Disease: melanoma
melanoma 		0.730 1.000 3 2008 2014
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.730 0.909 3 1993 2016
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0001916
Disease: Albinism
Albinism 		0.710 1.000 1 2013 2013
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.710 1.000 1 2009 2019
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 1 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 1 1990 2008
dbSNP: rs61754385
rs61754385
TYR ; LOC107984363
1.000 0.160 11 89227895 missense variant T/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.710 1.000 1 2013 2013
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
0.827 0.160 11 89227904 missense variant C/A snv 3.4E-04 5.0E-04
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.710 1.000 1 1990 2013
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.020 1.000 2 2008 2011
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.020 1.000 2 2008 2011
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.020 1.000 2 2008 2011
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		0.020 1.000 2 2008 2009
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		0.010 1.000 1 1991 1991
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.010 1.000 1 2016 2016
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1 		0.010 1.000 1 2001 2001
dbSNP: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.010 1.000 1 2009 2009
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C1845069
Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 		0.010 1.000 1 1997 1997
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2011 2011
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2011 2011