SNX17, sorting nexin 17, 9784

N. diseases: 13; N. variants: 5
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: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2013 2019
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0425782
Disease: Breast size
Breast size 		0.800 1.000 1 2012 2012
dbSNP: rs13472
rs13472 		0.925 0.120 2 27377372 3 prime UTR variant G/A snv 0.38
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 2010 2013
dbSNP: rs13472
rs13472 		0.925 0.120 2 27377372 3 prime UTR variant G/A snv 0.38
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1528533
rs1528533 		0.925 0.120 2 27372889 non coding transcript exon variant G/C snv 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1528533
rs1528533 		0.925 0.120 2 27372889 non coding transcript exon variant G/C snv 0.47
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 2010 2013
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs7602534
rs7602534 		0.925 0.120 2 27369556 splice region variant C/T snv 0.40 0.41
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs7602534
rs7602534 		0.925 0.120 2 27369556 splice region variant C/T snv 0.40 0.41
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 2010 2013
dbSNP: rs13472
rs13472 		0.925 0.120 2 27377372 3 prime UTR variant G/A snv 0.38
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1528533
rs1528533 		0.925 0.120 2 27372889 non coding transcript exon variant G/C snv 0.47
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs4665972
rs4665972 		2 27375230 intron variant T/C snv 0.69
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs368243788
rs368243788 		1.000 0.080 2 27368724 missense variant C/A;T snv 4.0E-06; 2.0E-04
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs368243788
rs368243788 		1.000 0.080 2 27368724 missense variant C/A;T snv 4.0E-06; 2.0E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007