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: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.800 1.000 2 2007 2018
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: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0016689
Disease: Freckles
Freckles 		0.700 1.000 1 2007 2007
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0025209
Disease: Melanosis
Melanosis 		0.700 1.000 1 2007 2007
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 4 2008 2014
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 3 2009 2019
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 2 2016 2019
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 2 2013 2018
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 2 2016 2019
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: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		0.020 1.000 2 2008 2009
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: 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: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 2 2016 2019
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH 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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		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: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 1 2016 2016
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2018 2018
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: 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: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
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