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: 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: 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: rs1209665716
rs1209665716 		1.000 0.120 17 18135798 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1209665716
rs1209665716 		1.000 0.120 17 18135798 stop gained C/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 0.700 0
dbSNP: rs121908967
rs121908967 		1.000 0.120 17 18151859 stop gained A/T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908968
rs121908968 		1.000 0.120 17 18124558 stop gained C/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: rs121908971
rs121908971 		1.000 0.120 17 18122113 stop gained G/A;T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1330406146
rs1330406146 		1.000 0.120 17 18149309 stop gained C/A;T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555543432
rs1555543432 		1.000 0.120 17 18136429 stop gained G/A;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555543432
rs1555543432 		1.000 0.120 17 18136429 stop gained G/A;T snv
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567618790
rs1567618790 		1.000 0.120 17 18119277 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567618790
rs1567618790 		1.000 0.120 17 18119277 stop gained G/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: rs1567623176
rs1567623176 		1.000 0.120 17 18120771 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567623176
rs1567623176 		1.000 0.120 17 18120771 stop gained G/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: rs1567638693
rs1567638693 		1.000 0.120 17 18135750 stop gained 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: rs1567638693
rs1567638693 		1.000 0.120 17 18135750 stop gained G/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567641234
rs1567641234 		1.000 0.120 17 18138244 stop gained C/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: rs1567641234
rs1567641234 		1.000 0.120 17 18138244 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567649945
rs1567649945 		1.000 0.120 17 18148157 stop gained G/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: rs1567658710
rs1567658710 		1.000 0.120 17 18158616 stop gained C/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: rs571594379
rs571594379 		1.000 0.120 17 18119425 stop gained G/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: rs759523751
rs759523751 		1.000 0.120 17 18119796 stop gained C/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 0.700 0
dbSNP: rs765468034
rs765468034 		1.000 0.120 17 18142826 stop gained C/T snv 4.1E-06 1.4E-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