ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: Deafness, Autosomal Dominant 20 ×
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: rs104894544
rs104894544 		1.000 0.120 17 81511913 missense variant T/A;C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs104894545
rs104894545 		1.000 0.120 17 81510824 missense variant G/C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs104894546
rs104894546 		1.000 0.120 17 81511199 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs104894547
rs104894547 		1.000 0.120 17 81510709 missense variant A/G snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs28999111
rs28999111 		1.000 0.120 17 81512000 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs28999112
rs28999112 		1.000 0.120 17 81511078 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 7 2003 2014
dbSNP: rs267606630
rs267606630 		1.000 0.120 17 81511912 missense variant C/G;T snv 8.0E-06
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs267606631
rs267606631 		1.000 0.120 17 81511269 missense variant C/T snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs281875330
rs281875330 		1.000 0.120 17 81511626 missense variant T/C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 2003 2014
dbSNP: rs281875329
rs281875329 		0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0