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: rs1126809
rs1126809
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity
0.700 0
dbSNP: rs28940881
rs28940881
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity
0.700 0
dbSNP: rs61753253
rs61753253
0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity
0.700 0