MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
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: rs111033284
rs111033284 		11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284 		11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1995 2011
dbSNP: rs11237123
rs11237123 		11 77211901 synonymous variant G/A snv 0.18 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs202080237
rs202080237 		11 77162134 missense variant G/A snv 1.9E-04 1.0E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs781893704
rs781893704 		11 77156737 missense variant C/T snv 2.0E-04 4.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1565430886
rs1565430886 		11 77189430 missense variant T/C snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565469959
rs1565469959 		11 77203220 splice region variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs192378817
rs192378817 		11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs746667217
rs746667217 		11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751242455
rs751242455 		11 77204094 missense variant G/A;C snv 8.8E-06; 4.4E-05
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853376
rs878853376 		11 77189468 stop gained A/T snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs371483693
rs371483693 		1.000 0.080 11 77205563 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs527236085
rs527236085 		1.000 0.080 11 77162965 missense variant G/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199897298
rs199897298 		1.000 0.120 11 77184688 missense variant G/T snv 2.2E-04 2.0E-04
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2011 2017
dbSNP: rs121965084
rs121965084 		1.000 0.120 11 77162149 missense variant A/G;T snv 1.3E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 4 1997 2004
dbSNP: rs121965081
rs121965081 		1.000 0.120 11 77157000 missense variant G/A;C snv 2.7E-04; 4.0E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1997 2017
dbSNP: rs111033285
rs111033285 		1.000 0.120 11 77158426 stop gained T/G snv 1.4E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2016 2016
dbSNP: rs121965084
rs121965084 		1.000 0.120 11 77162149 missense variant A/G;T snv 1.3E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs397516317
rs397516317 		1.000 0.120 11 77204141 stop gained C/T snv 2.7E-05 2.1E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1060499651
rs1060499651 		1.000 0.120 11 77156754 frameshift variant GT/- del
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1060499802
rs1060499802 		1.000 0.120 11 77211311 stop gained C/T snv 7.0E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1060499803
rs1060499803 		1.000 0.120 11 77194352 splice acceptor variant A/G snv
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033437
rs111033437 		0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033437
rs111033437 		0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033437
rs111033437 		0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C4023340
Disease: Childhood onset sensorineural hearing impairment
Childhood onset sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0