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: rs11532322
rs11532322 		1.000 0.040 12 123246876 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs576462794
rs576462794 		1.000 12 123253884 frameshift variant A/- del 1.8E-04 1.5E-04
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 1.000 3 2010 2015
dbSNP: rs4268544
rs4268544 		12 123250227 5 prime UTR variant T/G snv 0.63
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs587776508
rs587776508 		0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2010 2010
dbSNP: rs63406760
rs63406760 		1.000 0.120 12 123258146 intron variant G/- delins 0.63
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs63406760
rs63406760 		1.000 0.120 12 123258146 intron variant G/- delins 0.63
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs397514539
rs397514539 		1.000 12 123256924 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122365
rs398122365 		1.000 12 123256945 stop gained C/T snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122972
rs398122972 		0.925 0.120 12 123256876 frameshift variant G/- del
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587776508
rs587776508 		0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs587776508
rs587776508 		0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs587776508
rs587776508 		0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 0
dbSNP: rs587777667
rs587777667 		1.000 12 123256941 frameshift variant AACAA/- delins
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587777668
rs587777668 		1.000 12 123253958 splice donor variant T/A snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs863223926
rs863223926 		0.925 0.080 12 123253769 frameshift variant -/ATCC delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs863223926
rs863223926 		0.925 0.080 12 123253769 frameshift variant -/ATCC delins
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 0
dbSNP: rs398122972
rs398122972 		0.925 0.120 12 123256876 frameshift variant G/- del
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016