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: rs2681424
rs2681424 		1.000 0.080 3 122050675 upstream gene variant T/A;C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.800 1.000 2 2011 2016
dbSNP: rs2255214
rs2255214 		1.000 0.080 3 122051692 upstream gene variant G/T snv 0.44
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs113229608
rs113229608 		1.000 0.040 3 122024312 upstream gene variant C/A snv 4.5E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1806656
rs1806656 		0.925 0.080 3 121997324 intron variant C/G snv 0.23
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1806656
rs1806656 		0.925 0.080 3 121997324 intron variant C/G snv 0.23
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2332036
rs2332036 		3 121995544 intron variant C/T snv 0.38
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs372564314
rs372564314 		1.000 0.120 3 121993391 missense variant C/A;T snv 8.1E-06; 4.0E-06; 1.4E-04
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs771818841
rs771818841 		1.000 0.120 3 122005333 missense variant C/T snv 4.0E-06
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9816720
rs9816720 		3 121995837 intron variant G/A snv 0.41
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1226171550
rs1226171550 		1.000 0.120 3 121993717 frameshift variant C/- delins 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1226171550
rs1226171550 		1.000 0.120 3 121993717 frameshift variant C/- delins 4.0E-06
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559870857
rs1559870857 		3 121993587 frameshift variant AA/- del
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559875009
rs1559875009 		1.000 0.120 3 122001311 stop gained C/A snv
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559875009
rs1559875009 		1.000 0.120 3 122001311 stop gained C/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907015
rs387907015 		1.000 0.120 3 121993614 stop gained C/A snv
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907016
rs387907016 		1.000 0.120 3 122022075 start lost C/T snv
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907017
rs387907017 		1.000 0.120 3 122001371 stop gained G/A snv 4.0E-06
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs571007078
rs571007078 		1.000 0.120 3 121994215 frameshift variant A/- delins 1.0E-04
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775062249
rs775062249 		1.000 0.120 3 121993365 stop gained G/A snv 3.6E-05 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775062249
rs775062249 		1.000 0.120 3 121993365 stop gained G/A snv 3.6E-05 7.0E-06
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1172585670
rs1172585670 		3 121993482 missense variant C/A;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2715267
rs2715267 		0.925 0.080 3 122052011 upstream gene variant G/A;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs2715267
rs2715267 		0.925 0.080 3 122052011 upstream gene variant G/A;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs387907015
rs387907015 		1.000 0.120 3 121993614 stop gained C/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs765136820
rs765136820 		1.000 0.120 3 122001823 missense variant C/G snv 1.1E-04 2.8E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018