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: rs387906999
rs387906999 		1.000 0.120 19 3589910 missense variant T/G snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2011 2011
dbSNP: rs387907001
rs387907001 		1.000 0.120 19 3589892 missense variant G/A snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2011 2011
dbSNP: rs387907002
rs387907002 		1.000 0.120 19 3586967 missense variant C/A;T snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2011 2011
dbSNP: rs1214652710
rs1214652710 		1.000 0.120 19 3586533 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2011
dbSNP: rs761543680
rs761543680 		1.000 0.120 19 3589512 missense variant C/T snv 4.0E-05
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2011
dbSNP: rs763523474
rs763523474 		1.000 0.120 19 3586550 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2011
dbSNP: rs1348505504
rs1348505504 		1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1466835034
rs1466835034 		1.000 0.120 19 3590188 stop lost T/C snv 4.8E-06
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568278651
rs1568278651 		1.000 0.120 19 3589849 stop gained G/T snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568278651
rs1568278651 		1.000 0.120 19 3589849 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: rs387907000
rs387907000 		1.000 0.120 19 3590154 stop gained G/A snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs946085339
rs946085339 		1.000 0.120 19 3585733 missense variant G/A;T snv 1.5E-05
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs4806942
rs4806942 		1.000 0.120 19 3589341 intron variant G/A snv 0.13
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs8113232
rs8113232 		0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8113232
rs8113232 		0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24
CUI: C0043144
Disease: Wheezing
Wheezing 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs8113232
rs8113232 		0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012