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: rs183211
rs183211
0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 4 2009 2012
dbSNP: rs199533
rs199533
0.925 0.120 17 46751565 synonymous variant G/A snv 0.13 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 4 2009 2012
dbSNP: rs415430
rs415430
1.000 0.040 17 46781778 intron variant C/T snv 0.84
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 2 2011 2011
dbSNP: rs17608766
rs17608766
1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests
0.800 1.000 1 2010 2010
dbSNP: rs183211
rs183211
0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs199498
rs199498
0.925 0.120 17 46788237 intron variant T/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs199515
rs199515
0.925 0.120 17 46779275 intron variant G/C snv 0.84
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2074404
rs2074404
0.925 0.120 17 46788073 intron variant T/G snv 0.27
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs387906881
rs387906881
0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
0.800 1.000 1 2011 2011
dbSNP: rs17608766
rs17608766
1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 7 2011 2019
dbSNP: rs169201
rs169201
0.925 0.160 17 46712837 intron variant A/G snv 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs7224296
rs7224296
0.882 0.160 17 46722680 intron variant G/A snv 0.59
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs17608766
rs17608766
1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 2 2011 2016
dbSNP: rs916888
rs916888
17 46785767 intron variant T/C snv 0.19
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 2 2017 2019
dbSNP: rs10853087
rs10853087
17 46928746 intron variant C/G snv 0.54
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.700 1.000 1 2018 2018
dbSNP: rs11658276
rs11658276
17 46918168 intron variant C/T snv 0.52
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs141554661
rs141554661
0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs141899337
rs141899337
17 46852662 intron variant C/T snv 8.1E-03
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs142167
rs142167
17 46717868 intron variant A/G snv 0.30
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs144216645
rs144216645
17 46546423 intron variant T/A;C;G snv 0.51
CUI: C0023114
Disease: Handedness
Handedness
0.700 1.000 1 2019 2019
dbSNP: rs1563304
rs1563304
1.000 0.080 17 46797087 intron variant C/T snv 0.11
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1568177307
rs1568177307
1.000 0.040 17 46935027 splice acceptor variant A/G snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs169201
rs169201
0.925 0.160 17 46712837 intron variant A/G snv 0.13
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs169201
rs169201
0.925 0.160 17 46712837 intron variant A/G snv 0.13
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17608766
rs17608766
1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.700 1.000 1 2011 2011