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: rs1038026
rs1038026 		1.000 0.080 19 44901805 3 prime UTR variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs10527454
rs10527454 		1.000 0.080 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11556505
rs11556505 		0.925 0.080 19 44892887 synonymous variant C/T snv 0.13 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs11556505
rs11556505 		0.925 0.080 19 44892887 synonymous variant C/T snv 0.13 0.13
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs11556505
rs11556505 		0.925 0.080 19 44892887 synonymous variant C/T snv 0.13 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1160984
rs1160984 		1.000 0.080 19 44900667 intron variant C/T snv 3.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1160985
rs1160985 		1.000 0.080 19 44900155 intron variant C/T snv 0.52
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1160985
rs1160985 		1.000 0.080 19 44900155 intron variant C/T snv 0.52
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11668327
rs11668327 		1.000 0.080 19 44895376 intron variant G/C snv 0.12
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11668327
rs11668327 		1.000 0.080 19 44895376 intron variant G/C snv 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs117310449
rs117310449 		1.000 0.080 19 44890259 intron variant C/T snv 7.3E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs142412517
rs142412517 		1.000 0.080 19 44900801 missense variant C/T snv 4.9E-04 5.7E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs157581
rs157581 		0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs157581
rs157581 		0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs157581
rs157581 		0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs34404554
rs34404554 		1.000 0.080 19 44892652 intron variant C/G snv 0.12
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs34404554
rs34404554 		1.000 0.080 19 44892652 intron variant C/G snv 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35568738
rs35568738 		1.000 0.080 19 44899461 intron variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs394819
rs394819 		1.000 0.080 19 44901322 missense variant G/A;T snv 3.7E-05; 9.7E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs561654715
rs561654715 		1.000 0.080 19 44890947 intron variant G/A snv 1.7E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs59007384
rs59007384 		0.851 0.080 19 44893408 intron variant G/A;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs59007384
rs59007384 		0.851 0.080 19 44893408 intron variant G/A;T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs59007384
rs59007384 		0.851 0.080 19 44893408 intron variant G/A;T snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs59007384
rs59007384 		0.851 0.080 19 44893408 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs61679753
rs61679753 		1.000 0.080 19 44897490 intron variant T/A snv 5.6E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012