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: rs1057517966
rs1057517966
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs147682682
rs147682682
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559749017
rs1559749017
0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559751245
rs1559751245
0.882 0.280 3 69959280 missense variant C/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs748345812
rs748345812
3 69879304 missense variant T/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs757572880
rs757572880
3 69879267 missense variant C/G snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019