MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
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: rs121908965
rs121908965 		1.000 0.120 17 18145935 missense variant A/G;T snv 1.2E-05
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1998 2014
dbSNP: rs121908966
rs121908966 		1.000 0.120 17 18145929 missense variant A/T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1998 2014
dbSNP: rs121908969
rs121908969 		1.000 0.120 17 18154190 missense variant G/T 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 0.800 1.000 3 1998 2014
dbSNP: rs1555543296
rs1555543296 		17 18135775 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2016
dbSNP: rs1555545225
rs1555545225 		17 18146034 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2016
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: rs117071200
rs117071200 		1.000 0.120 17 18143728 missense variant G/A;T snv 1.6E-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 2 2013 2015
dbSNP: rs184435771
rs184435771 		1.000 0.120 17 18154714 missense variant G/A snv 1.9E-04 1.1E-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 2 2011 2013
dbSNP: rs749136456
rs749136456 		1.000 0.120 17 18131523 missense variant G/A;C snv 3.6E-05; 1.2E-05
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 2 2010 2016
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: rs375290498
rs375290498 		1.000 0.120 17 18143580 stop gained G/A;T snv 2.0E-03
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 2012 2012
dbSNP: rs377385081
rs377385081 		1.000 0.120 17 18145938 missense 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 1.000 1 2013 2013
dbSNP: rs773648511
rs773648511 		1.000 0.120 17 18119063 missense variant C/T snv 4.1E-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 1.000 1 2019 2019
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: rs854765
rs854765 		17 18109416 non coding transcript exon variant T/C snv 0.43
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs854775
rs854775 		17 18147574 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs865923
rs865923 		17 18151603 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs865923
rs865923 		17 18151603 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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: rs1057519601
rs1057519601 		0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057519603
rs1057519603 		0.925 0.120 17 18126856 missense 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: rs1057519603
rs1057519603 		0.925 0.120 17 18126856 missense variant T/C snv
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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: rs1057519604
rs1057519604 		0.925 0.120 17 18148937 frameshift variant G/- delins
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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