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: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1445287184
rs1445287184 		1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1565819402
rs1565819402 		12 80613829 frameshift variant AT/- delins
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565855932
rs1565855932 		12 80678601 splice acceptor variant G/A snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs183258549
rs183258549 		1.000 12 80460829 stop gained T/A;C snv
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.700 0
dbSNP: rs281865414
rs281865414 		1.000 12 80460707 missense variant A/G snv 5.6E-05
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.700 0
dbSNP: rs1322366495
rs1322366495 		1.000 0.120 12 80649626 missense variant A/G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs190166486
rs190166486 		1.000 0.120 12 80539915 missense variant A/G snv 1.6E-04 6.3E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015