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: rs143747297
rs143747297 		1.000 6 73482061 missense variant G/A snv 5.6E-05 4.2E-05
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.800 1.000 3 2012 2014
dbSNP: rs201544686
rs201544686 		1.000 6 73482209 missense variant G/A snv 1.7E-04 2.7E-04
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 1.000 3 2013 2018
dbSNP: rs1033653237
rs1033653237 		1.000 6 73482208 missense variant C/T snv
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs1060499776
rs1060499776 		6 73497766 missense variant T/A;G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1275100093
rs1275100093 		1.000 6 73482035 splice region variant T/C;G snv
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs1554148965
rs1554148965 		1.000 6 73479960 missense variant A/C snv
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs1561954433
rs1561954433 		1.000 6 73497801 frameshift variant C/- del
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs371179032
rs371179032 		1.000 6 73479844 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs397518449
rs397518449 		1.000 6 73497836 frameshift variant -/A delins
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs398122419
rs398122419 		1.000 6 73480777 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs746382157
rs746382157 		6 73500589 missense variant C/A snv 4.4E-05 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs748152539
rs748152539 		1.000 6 73482229 missense variant C/T snv 2.0E-05 4.2E-05
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.700 0
dbSNP: rs1176235580
rs1176235580 		0.925 0.120 6 73482214 missense variant G/A snv
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 1.000 1 2003 2003
dbSNP: rs1176235580
rs1176235580 		0.925 0.120 6 73482214 missense variant G/A 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 2003 2003
dbSNP: rs1176235580
rs1176235580 		0.925 0.120 6 73482214 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs139449947
rs139449947 		0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-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 2003 2003
dbSNP: rs139449947
rs139449947 		0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs139449947
rs139449947 		0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-05
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 1.000 1 2003 2003