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: rs1271250198
rs1271250198 		0.925 0.240 1 40784233 missense variant T/C snv
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1271250198
rs1271250198 		0.925 0.240 1 40784233 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137853969
rs137853969 		1.000 0.120 1 40819899 missense variant G/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 5 1999 2011
dbSNP: rs138553394
rs138553394 		1 40788605 intron variant T/A snv 1.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553165199
rs1553165199 		1.000 0.120 1 40784317 frameshift variant -/GC delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1557977732
rs1557977732 		1.000 0.120 1 40784352 inframe deletion CTACAACGT/- delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1558014576
rs1558014576 		1.000 0.120 1 40819434 missense variant G/T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs267598596
rs267598596 		0.827 0.120 1 40818164 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267598596
rs267598596 		0.827 0.120 1 40818164 missense variant G/A snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs267598596
rs267598596 		0.827 0.120 1 40818164 missense variant G/A snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267598596
rs267598596 		0.827 0.120 1 40818164 missense variant G/A snv
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267598596
rs267598596 		0.827 0.120 1 40818164 missense variant G/A snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs28937588
rs28937588 		0.925 0.120 1 40819893 missense variant G/A;T snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2014
dbSNP: rs28937588
rs28937588 		0.925 0.120 1 40819893 missense variant G/A;T snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28939710
rs28939710 		1.000 0.120 1 40820180 missense variant G/A snv 7.0E-06
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2015
dbSNP: rs28939710
rs28939710 		1.000 0.120 1 40820180 missense variant G/A snv 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs5773704
rs5773704 		1.000 0.040 1 40814886 intron variant C/T snv 0.25
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs745605543
rs745605543 		0.925 0.120 1 40784314 missense variant C/T snv 2.7E-05 7.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs745605543
rs745605543 		0.925 0.120 1 40784314 missense variant C/T snv 2.7E-05 7.0E-06
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs772135867
rs772135867 		1.000 0.120 1 40838474 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797044965
rs797044965 		1.000 0.120 1 40818661 missense variant T/A snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797044966
rs797044966 		1.000 0.120 1 40819439 inframe deletion CCT/- delins
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2013 2013
dbSNP: rs797044967
rs797044967 		1.000 0.120 1 40819446 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797044968
rs797044968 		0.925 0.120 1 40819461 missense variant T/C snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs797044968
rs797044968 		0.925 0.120 1 40819461 missense variant T/C snv
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014