HP, haptoglobin, 3240

N. diseases: 464; N. variants: 9
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: rs104894517
rs104894517 		1.000 16 72060409 missense variant T/C snv 8.0E-05 2.5E-04
CUI: C3279786
Disease: ANHAPTOGLOBINEMIA
ANHAPTOGLOBINEMIA 		0.800 1.000 1 2004 2004
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1298695421
rs1298695421 		0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1298695421
rs1298695421 		0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2070937
rs2070937 		1.000 0.040 16 72055841 non coding transcript exon variant A/G snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs4788458
rs4788458 		1.000 0.080 16 72054776 non coding transcript exon variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5470
rs5470 		0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470 		0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470 		0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0040592
Disease: Trachoma
Trachoma 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0040592
Disease: Trachoma
Trachoma 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471 		0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5472
rs5472 		1.000 0.080 16 72054568 5 prime UTR variant A/G snv 0.33
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5473
rs5473 		1.000 0.040 16 72059118 splice region variant G/A snv 1.2E-02 5.9E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs9927981
rs9927981 		1.000 0.080 16 72054753 non coding transcript exon variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017