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: rs709668
rs709668 		5 96838483 intron variant A/G snv 0.71
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs11455840
rs11455840 		5 96910265 non coding transcript exon variant AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17408150
rs17408150 		5 96903554 missense variant T/A snv 4.0E-02 3.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2013717
rs2013717 		5 96798472 intron variant T/G snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs27033
rs27033 		5 96771195 intron variant T/A snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2927608
rs2927608 		5 96916728 intron variant G/A snv 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2927615
rs2927615 		5 96862499 intron variant G/A snv 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs34261036
rs34261036 		5 96895352 missense variant T/C;G snv 4.0E-06; 4.1E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35134
rs35134 		5 96823820 intron variant A/G snv 0.65
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs397964890
rs397964890 		5 96787817 intron variant -/AT;ATAT delins 0.63
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs42398
rs42398 		5 96784751 intron variant C/T snv 0.80
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs469735
rs469735 		5 96794311 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs469783
rs469783 		5 96785820 synonymous variant C/T snv 0.55 0.56
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4869314
rs4869314 		5 96893521 intron variant G/T snv 0.52
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs73774722
rs73774722 		5 96820969 intron variant G/A snv 2.2E-04
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs774652019
rs774652019 		5 96765222 splice acceptor variant A/G;T snv 8.1E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs779255105
rs779255105 		5 96762316 missense variant G/A snv 4.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015