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: rs104893975
rs104893975 		1.000 0.120 6 35806050 missense variant A/G snv 2.8E-05
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 4 2006 2017
dbSNP: rs104893976
rs104893976 		1.000 0.120 6 35814627 missense variant C/T snv 5.2E-05 9.8E-05
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 4 2006 2017
dbSNP: rs774466373
rs774466373 		1.000 0.120 6 35814660 missense variant G/A;T snv 4.4E-05; 8.0E-06
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2006 2017
dbSNP: rs1060499810
rs1060499810 		1.000 0.120 6 35805671 start lost A/G snv
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554147220
rs1554147220 		1.000 0.120 6 35814708 missense variant T/C snv
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs753739358
rs753739358 		1.000 0.120 6 35814605 missense variant C/T snv 6.0E-05 5.6E-05
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs762876554
rs762876554 		1.000 0.120 6 35814585 missense variant G/T snv 8.0E-06
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs762876554
rs762876554 		1.000 0.120 6 35814585 missense variant G/T snv 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs3748050
rs3748050 		1.000 0.080 6 35797291 splice donor variant T/C snv 0.25 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009