HPN, hepsin, 3249

N. diseases: 57; 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: rs4806073
rs4806073 		19 35064286 intron variant T/C snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.800 1.000 1 2012 2012
dbSNP: rs10406943
rs10406943 		19 35050344 intron variant T/C;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs138450474
rs138450474 		1.000 0.040 19 35039140 missense variant G/A;C snv 2.0E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs149131600
rs149131600 		1.000 0.040 19 35058218 intron variant C/A;T snv 0.10
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs149131600
rs149131600 		1.000 0.040 19 35058218 intron variant C/A;T snv 0.10
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1688043
rs1688043 		19 35062437 intron variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1688043
rs1688043 		19 35062437 intron variant C/G;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1688043
rs1688043 		19 35062437 intron variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2452000
rs2452000 		19 35063480 intron variant G/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4806073
rs4806073 		19 35064286 intron variant T/C snv 0.85
CUI: C0728877
Disease: Serum albumin level
Serum albumin level 		0.700 1.000 1 2012 2012
dbSNP: rs72550247
rs72550247 		0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.700 1.000 1 2009 2009
dbSNP: rs2305745
rs2305745 		0.925 0.080 19 35065377 intron variant G/A snv 0.70 0.63
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305745
rs2305745 		0.925 0.080 19 35065377 intron variant G/A snv 0.70 0.63
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305747
rs2305747 		0.925 0.080 19 35065453 intron variant C/T snv 0.63
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305747
rs2305747 		0.925 0.080 19 35065453 intron variant C/T snv 0.63
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs72550247
rs72550247 		0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009