TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940877
rs28940877
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28940881
rs28940881
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs376823382
rs376823382
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
Skin and Connective Tissue Diseases 0.700 0