rs201866631, USH1G

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
Deafness
CUI: C0011053
Disease: Deafness
37 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
USHER SYNDROME, TYPE IG
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
9 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0