MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Disease: Deafness, Autosomal Recessive 3 ×
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: rs1555547112
rs1555547112 		1.000 0.120 17 18158644 splice region variant T/A snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853228
rs878853228 		1.000 0.120 17 18155225 splice region variant G/A;T snv 8.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567658906
rs1567658906 		1.000 0.120 17 18158924 splice acceptor variant G/T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs377015931
rs377015931 		1.000 0.120 17 18157155 splice acceptor variant G/A snv 8.3E-06 5.6E-05
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs746051220
rs746051220 		1.000 0.120 17 18158522 splice acceptor variant G/C;T snv 8.0E-06 7.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854415
rs878854415 		0.925 0.120 17 18144495 splice acceptor variant A/G snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs769260536
rs769260536 		1.000 0.120 17 18119934 frameshift variant C/- delins 9.6E-05 1.0E-04
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2013 2014
dbSNP: rs1567620939
rs1567620939 		1.000 0.120 17 18119970 frameshift variant -/GCCATCT delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs794729637
rs794729637 		1.000 0.120 17 18122105 frameshift variant -/G delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1057519601
rs1057519601 		0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057519604
rs1057519604 		0.925 0.120 17 18148937 frameshift variant G/- delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057519607
rs1057519607 		0.925 0.120 17 18178843 frameshift variant -/C delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1221876133
rs1221876133 		1.000 0.120 17 18153812 frameshift variant -/A delins 8.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1270302810
rs1270302810 		1.000 0.120 17 18178850 frameshift variant A/- del 3.5E-05
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555543836
rs1555543836 		1.000 0.120 17 18138856 frameshift variant -/C delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567664131
rs1567664131 		1.000 0.120 17 18167597 frameshift variant GACT/- delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs750130520
rs750130520 		1.000 0.120 17 18119214 frameshift variant A/-;AA delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs769884586
rs769884586 		1.000 0.120 17 18122134 frameshift variant G/- delins 2.8E-05 7.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs772536599
rs772536599 		1.000 0.120 17 18119979 frameshift variant C/-;CC delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs780170125
rs780170125 		0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854413
rs878854413 		1.000 0.120 17 18140639 frameshift variant C/- delins
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057519606
rs1057519606 		0.925 0.120 17 18159349 splice donor variant T/C snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs748108031
rs748108031 		1.000 0.120 17 18125232 splice donor variant G/A;T snv 8.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751142446
rs751142446 		1.000 0.120 17 18144001 splice donor variant G/A;T snv 4.1E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs773461233
rs773461233 		1.000 0.120 17 18153897 splice donor variant G/A snv 4.0E-06
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0