Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs147321712
rs147321712
OTOF
1.000 0.120 2 26466731 stop gained G/A;T snv 2.3E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs147321712
rs147321712
OTOF
1.000 0.120 2 26466731 stop gained G/A;T snv 2.3E-04
CUI: C1832828
Disease: Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 9 		0.700 0