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: rs121434324
rs121434324 		1.000 0.160 5 60944972 stop gained C/A snv 7.6E-05 4.9E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 2 2004 2010
dbSNP: rs137852863
rs137852863 		0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2000 2016
dbSNP: rs137852863
rs137852863 		0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2000 2016
dbSNP: rs137852863
rs137852863 		0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2016
dbSNP: rs12518792
rs12518792 		5 61090826 intron variant C/T snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13187930
rs13187930 		5 61088344 intron variant T/C snv 0.76
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs137852863
rs137852863 		0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1526896
rs1526896 		1.000 0.040 5 61063883 intron variant A/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1526896
rs1526896 		1.000 0.040 5 61063883 intron variant A/G snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554076309
rs1554076309 		1.000 5 60945264 stop gained G/A snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 1.000 1 2010 2010
dbSNP: rs162227
rs162227 		1.000 0.040 5 60964716 intron variant C/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2161199
rs2161199 		0.925 0.040 5 61144544 intron variant T/C snv 4.9E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2161199
rs2161199 		0.925 0.040 5 61144544 intron variant T/C snv 4.9E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2694528
rs2694528 		1.000 0.040 5 60978096 intron variant C/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs290506
rs290506 		5 61002533 intron variant A/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34642
rs34642 		5 61049924 intron variant C/T snv 0.81
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs72757182
rs72757182 		5 60947457 intron variant C/A snv 2.6E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs72759215
rs72759215 		5 61056756 intron variant C/T snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs772294726
rs772294726 		1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs137852863
rs137852863 		0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs1554076239
rs1554076239 		1.000 0.160 5 60944930 splice donor variant A/C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554076306
rs1554076306 		1.000 5 60945256 start lost A/T snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs1554076324
rs1554076324 		1.000 5 60945358 frameshift variant A/- del
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs199754807
rs199754807 		1.000 5 60945369 stop gained C/G snv 5.6E-05 2.8E-05
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs158572
rs158572 		0.851 0.120 5 60943616 intron variant G/A snv 0.63
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2015 2018