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: rs111770942
rs111770942 		2 73498512 intron variant TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG delins
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs13391552
rs13391552 		2 73591809 intron variant G/A;C snv
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs13391552
rs13391552 		2 73591809 intron variant G/A;C snv
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs2421552
rs2421552 		2 73531676 intron variant C/T snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2421552
rs2421552 		2 73531676 intron variant C/T snv 0.30
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs35273932
rs35273932 		2 73512721 intron variant G/T snv 7.2E-03
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs4500972
rs4500972 		2 73540770 intron variant G/A snv 0.40
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2017 2017
dbSNP: rs4500972
rs4500972 		2 73540770 intron variant G/A snv 0.40
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs56145559
rs56145559 		1.000 0.040 2 73396311 intron variant C/T snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs6546857
rs6546857 		2 73610828 intron variant A/G snv 0.32
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6726694
rs6726694 		2 73620103 intron variant A/G snv 0.36
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs7587577
rs7587577 		2 73605659 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs9309473
rs9309473 		2 73516855 intron variant A/G snv 0.31
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
dbSNP: rs549857076
rs549857076 		1.000 0.120 2 73489964 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2005 2013
dbSNP: rs1275113273
rs1275113273 		1.000 0.120 2 73424716 stop gained C/T snv 7.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs367877017
rs367877017 		1.000 0.120 2 73573081 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2007 2016
dbSNP: rs770558150
rs770558150 		1.000 0.120 2 73452960 stop gained C/A;T snv 1.6E-05; 1.6E-05
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2015 2015
dbSNP: rs772136379
rs772136379 		1.000 0.120 2 73451669 stop gained T/C;G snv 4.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs1085307054
rs1085307054 		1.000 0.120 2 73450308 stop gained G/T snv
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs375019820
rs375019820 		1.000 0.120 2 73572423 stop gained C/G;T snv 8.1E-06; 4.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs539612316
rs539612316 		0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs563393715
rs563393715 		1.000 0.120 2 73491497 stop gained C/A;G;T snv 2.5E-04
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs761071372
rs761071372 		1.000 0.120 2 73453324 stop gained T/A snv 8.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1060500039
rs1060500039 		1.000 0.120 2 73453771 stop gained C/A;G snv 4.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1192396248
rs1192396248 		1.000 0.120 2 73572699 stop gained C/T snv 7.0E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0