MYO6, myosin VI, 4646

N. diseases: 14; N. variants: 21
Source: CURATED ×
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: rs121912559
rs121912559 		1.000 0.120 6 75840678 missense variant A/T snv 3.2E-04 8.4E-05
CUI: C1843028
Disease: Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 37 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs121912560
rs121912560 		0.925 0.160 6 75841299 missense variant A/G snv 4.0E-06
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1280049
rs1280049 		6 75826616 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2295938
rs2295938 		6 75892275 intron variant G/A snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2312933
rs2312933 		6 75867948 intron variant C/T snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3798440
rs3798440 		6 75846902 intron variant C/T snv 0.13
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6453843
rs6453843 		6 75848768 intron variant T/G snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9294004
rs9294004 		6 75896339 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9350602
rs9350602 		6 75850781 intron variant C/T snv 0.13
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9359145
rs9359145 		6 75878473 intron variant G/A snv 0.95
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9443189
rs9443189 		1.000 0.080 6 75786165 intron variant A/G snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1060499799
rs1060499799 		1.000 0.120 6 75844977 missense variant G/T snv
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912557
rs121912557 		0.882 0.120 6 75857198 missense variant G/A snv
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912558
rs121912558 		1.000 0.120 6 75914119 stop gained C/T snv 7.0E-06
CUI: C1843028
Disease: Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 37 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912560
rs121912560 		0.925 0.160 6 75841299 missense variant A/G snv 4.0E-06
CUI: C3501265
Disease: Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121912561
rs121912561 		1.000 0.120 6 75886881 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554218566
rs1554218566 		0.925 0.120 6 75890115 stop gained C/A snv
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554218566
rs1554218566 		0.925 0.120 6 75890115 stop gained C/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562201376
rs1562201376 		1.000 0.120 6 75817582 frameshift variant -/T delins
CUI: C1843028
Disease: Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 37 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562283089
rs1562283089 		1.000 0.120 6 75884246 intron variant T/G snv
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503326
rs727503326 		0.925 0.120 6 75844906 stop gained C/T snv 1.6E-05
CUI: C1843028
Disease: Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 37 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503326
rs727503326 		0.925 0.120 6 75844906 stop gained C/T snv 1.6E-05
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727504567
rs727504567 		1.000 0.120 6 75828590 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853225
rs878853225 		1.000 0.120 6 75858993 splice donor variant GGT/C delins
CUI: C2931767
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0