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: rs104894270
rs104894270
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 1.000 3 2004 2018
dbSNP: rs142248674
rs142248674
1.000 11 47582124 missense variant C/G;T snv 4.0E-06; 1.6E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.700 1.000 3 2004 2018
dbSNP: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 1.000 3 2004 2018
dbSNP: rs104894270
rs104894270
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05
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 2013 2013
dbSNP: rs104894270
rs104894270
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11537751
rs11537751
11 47565900 missense variant C/T snv 3.7E-02 3.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11605348
rs11605348
11 47584931 upstream gene variant G/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs11605348
rs11605348
11 47584931 upstream gene variant G/A snv 0.28
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs144915398
rs144915398
11 47576929 intron variant G/A snv 1.0E-02
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs144915398
rs144915398
11 47576929 intron variant G/A snv 1.0E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2280231
rs2280231
11 47578886 5 prime UTR variant C/T snv 0.24 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.700 1.000 1 2012 2012
dbSNP: rs2280231
rs2280231
11 47578886 5 prime UTR variant C/T snv 0.24 0.20
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
0.700 1.000 1 2012 2012
dbSNP: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
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 2013 2013
dbSNP: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs138867882
rs138867882
1.000 0.040 11 47580977 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs771783839
rs771783839
1.000 0.040 11 47582437 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
Nutritional and Metabolic Diseases 0.700 0