GPN1, GPN-loop GTPase 1, 11321

N. diseases: 20; N. variants: 7
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: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 1 2011 2011
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.710 1.000 1 2016 2016
dbSNP: rs13002853
rs13002853 		0.925 0.120 2 27630378 intron variant C/G snv 0.20
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2013
dbSNP: rs13002853
rs13002853 		0.925 0.120 2 27630378 intron variant C/G snv 0.20
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2013
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2013
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2013
dbSNP: rs11692692
rs11692692 		2 27638840 intron variant G/A snv 0.46 0.42
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs13002853
rs13002853 		0.925 0.120 2 27630378 intron variant C/G snv 0.20
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13002853
rs13002853 		0.925 0.120 2 27630378 intron variant C/G snv 0.20
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13002853
rs13002853 		0.925 0.120 2 27630378 intron variant C/G snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34502053
rs34502053 		2 27631657 intron variant G/A snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2015 2015
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3749147
rs3749147 		0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0496758
Disease: Malignant neoplasm of lateral floor of mouth
Malignant neoplasm of lateral floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0153380
Disease: Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of other specified parts of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0153407
Disease: Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of other sites within the lip and oral cavity 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0153369
Disease: Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of anterior portion of floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs373369109
rs373369109 		2 27650198 stop lost T/C snv 4.4E-05; 4.0E-06 4.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs373369109
rs373369109 		2 27650198 stop lost T/C snv 4.4E-05; 4.0E-06 4.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs6547741
rs6547741 		0.807 0.080 2 27633057 intron variant G/A snv 0.53
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs8731
rs8731 		2 27650459 3 prime UTR variant C/G snv 0.22
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011