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: rs587777737
rs587777737 		1.000 0.120 8 101619632 missense variant T/C snv
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs587777738
rs587777738 		1.000 0.120 8 101632325 missense variant T/A;C snv 4.0E-06
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs10955269
rs10955269 		8 101653780 intron variant C/A snv 0.38
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1554579819
rs1554579819 		0.925 0.080 8 101492922 intron variant A/- del
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554579832
rs1554579832 		1.000 0.080 8 101493045 intron variant T/- delins
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554579878
rs1554579878 		0.925 0.080 8 101493333 intron variant G/T snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554579819
rs1554579819 		0.925 0.080 8 101492922 intron variant A/- del
CUI: C4747961
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		0.700 0
dbSNP: rs1554579878
rs1554579878 		0.925 0.080 8 101493333 intron variant G/T snv
CUI: C4747961
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		0.700 0
dbSNP: rs398122997
rs398122997 		1.000 0.120 8 101644221 frameshift variant -/C delins
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs398123006
rs398123006 		1.000 0.120 8 101631636 splice acceptor variant G/A snv
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs10955255
rs10955255 		1.000 0.120 8 101524177 intron variant A/G;T snv
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs611419
rs611419 		1.000 0.120 8 101491489 intron variant T/A;C snv
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6989650
rs6989650 		1.000 0.120 8 101669109 3 prime UTR variant C/T snv 0.24
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016