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: rs1463109821
rs1463109821
TYR ; LOC107984363
1.000 0.160 11 89191245 missense variant T/C snv 7.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs1468041471
rs1468041471
TYR ; LOC107984363
1.000 0.160 11 89191247 missense variant T/C snv 7.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 20 1990 2014
dbSNP: rs281865327
rs281865327
TYR ; LOC107984363
1.000 0.160 11 89284903 missense variant T/G snv 7.0E-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: 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: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 4 2009 2017
dbSNP: rs61754391
rs61754391
TYR ; LOC107984363
1.000 0.160 11 89227924 missense variant T/C snv
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 1.000 4 1991 1999
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.800 1.000 3 2010 2012
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0015396
Disease: Eye Color
Eye Color 		0.800 1.000 2 2007 2010
dbSNP: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		0.700 1.000 1 2018 2018
dbSNP: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2018 2018
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: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		0.700 1.000 1 2018 2018
dbSNP: rs12295166
rs12295166
TYR ; LOC107984363
11 89242989 intron variant T/C snv 0.25
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2009 2009
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		0.010 1.000 1 2015 2015
dbSNP: rs1565386964
rs1565386964
TYR ; LOC107984363
1.000 0.160 11 89178667 stop gained G/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.700 1.000 1 2011 2011
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
0.925 0.080 11 89272085 intron variant A/C snv 0.26
CUI: C0015396
Disease: Eye Color
Eye Color 		0.800 1.000 1 2010 2010
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
0.925 0.080 11 89272085 intron variant A/C snv 0.26
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
0.925 0.080 11 89272085 intron variant A/C snv 0.26
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 1 2010 2010
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