Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29
rs1376096651
MITF
0.882 0.280 3 69964977 missense variant A/G;T snv 3