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: rs508487
rs508487 		11 117204850 3 prime UTR variant C/T snv 5.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 4 2011 2019
dbSNP: rs12418744
rs12418744 		11 117213821 non coding transcript exon variant G/A snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs142953140
rs142953140 		11 117218489 missense variant C/T snv 1.9E-04 6.8E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2014 2014
dbSNP: rs142953140
rs142953140 		11 117218489 missense variant C/T snv 1.9E-04 6.8E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs150758276
rs150758276 		1.000 0.040 11 117215158 non coding transcript exon variant G/C snv 1.5E-02
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17120434
rs17120434 		11 117204969 3 prime UTR variant A/G;T snv 5.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17120434
rs17120434 		11 117204969 3 prime UTR variant A/G;T snv 5.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17120434
rs17120434 		11 117204969 3 prime UTR variant A/G;T snv 5.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs199605734
rs199605734 		11 117208717 non coding transcript exon variant A/G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2238005
rs2238005 		1.000 0.040 11 117217366 non coding transcript exon variant C/T snv 5.4E-02
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2306473
rs2306473 		11 117227236 synonymous variant C/T snv 0.19 0.22
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs236911
rs236911 		11 117214554 non coding transcript exon variant A/C snv 0.15
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C3541318
Disease: Soluble Transferrin Receptor Measurement
Soluble Transferrin Receptor Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs508487
rs508487 		11 117204850 3 prime UTR variant C/T snv 5.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs508487
rs508487 		11 117204850 3 prime UTR variant C/T snv 5.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs508487
rs508487 		11 117204850 3 prime UTR variant C/T snv 5.2E-02
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs641620
rs641620 		11 117203513 intron variant T/C snv 0.27 0.27
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2014 2017
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.030 1.000 3 2014 2017
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2016 2017
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs236918
rs236918 		0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2019 2019