MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
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: rs1253943370
rs1253943370
0.925 0.200 11 77189416 stop gained G/A snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782539587
rs782539587
0.925 0.200 11 77161030 stop gained A/T snv 1.6E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0