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: rs28937588
rs28937588 		0.925 0.120 1 40819893 missense variant G/A;T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2014
dbSNP: rs28939710
rs28939710 		1.000 0.120 1 40820180 missense variant G/A snv 7.0E-06
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2015
dbSNP: rs80358276
rs80358276 		1.000 0.120 1 40819459 missense variant T/A snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2015
dbSNP: rs80358278
rs80358278 		1.000 0.120 1 40819882 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2015
dbSNP: rs137853969
rs137853969 		1.000 0.120 1 40819899 missense variant G/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 1999 2011
dbSNP: rs80358277
rs80358277 		1.000 0.120 1 40819465 missense variant G/C snv 7.0E-06
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 1999 2011
dbSNP: rs797044966
rs797044966 		1.000 0.120 1 40819439 inframe deletion CCT/- delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2013 2013
dbSNP: rs138553394
rs138553394 		1 40788605 intron variant T/A snv 1.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553165199
rs1553165199 		1.000 0.120 1 40784317 frameshift variant -/GC delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs772135867
rs772135867 		1.000 0.120 1 40838474 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797044965
rs797044965 		1.000 0.120 1 40818661 missense variant T/A snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797044967
rs797044967 		1.000 0.120 1 40819446 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797044968
rs797044968 		0.925 0.120 1 40819461 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797044969
rs797044969 		1.000 0.120 1 40819911 missense variant C/T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797044970
rs797044970 		1.000 0.120 1 40819912 missense variant C/T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797044971
rs797044971 		1.000 0.120 1 40819931 missense variant G/A;T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797044972
rs797044972 		1.000 0.120 1 40822313 splice region variant TGCCTGGC/- delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80358273
rs80358273 		0.882 0.160 1 40818518 missense variant C/G snv 3.3E-04 1.1E-04
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80358274
rs80358274 		1.000 0.120 1 40819416 missense variant G/A snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80358275
rs80358275 		1.000 0.120 1 40819423 missense variant A/T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80358279
rs80358279 		1.000 0.120 1 40819926 missense variant G/A snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1271250198
rs1271250198 		0.925 0.240 1 40784233 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1557977732
rs1557977732 		1.000 0.120 1 40784352 inframe deletion CTACAACGT/- delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1558014576
rs1558014576 		1.000 0.120 1 40819434 missense variant G/T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28939710
rs28939710 		1.000 0.120 1 40820180 missense variant G/A snv 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0