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: rs1553404283
rs1553404283 		1.000 0.120 2 73453113 frameshift variant A/- delins
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2006 2017
dbSNP: rs387906312
rs387906312 		1.000 0.120 2 73572649 frameshift variant C/- del 5.2E-05 3.5E-05
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2002 2015
dbSNP: rs1225343345
rs1225343345 		1.000 0.120 2 73453898 frameshift variant GA/- delins
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2007 2012
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: rs1034630858
rs1034630858 		1.000 0.120 2 73453093 frameshift variant TCAC/- delins 8.0E-06 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 2 2002 2007
dbSNP: rs1218465638
rs1218465638 		1.000 0.120 2 73572662 frameshift variant TG/- delins 4.0E-06 2.1E-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 2012
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: rs1553404358
rs1553404358 		1.000 0.120 2 73453424 frameshift variant G/- delins
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: 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: rs755616266
rs755616266 		1.000 0.120 2 73572703 frameshift variant AG/- delins 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 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: rs779366889
rs779366889 		1.000 0.120 2 73451437 frameshift variant TAAA/- delins 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: rs10193972
rs10193972 		2 73490529 missense variant A/G snv 0.26 0.39
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
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: 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: rs1220975714
rs1220975714 		1.000 0.120 2 73572406 frameshift variant -/TGTCTTTCCAAGATTGGAA delins 4.1E-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 2002 2002
dbSNP: rs1246023978
rs1246023978 		1.000 0.120 2 73453826 frameshift variant AG/- delins 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: 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: rs1370417967
rs1370417967 		1.000 0.120 2 73453898 frameshift variant ATAG/- delins 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 1 2015 2015
dbSNP: rs1476205467
rs1476205467 		1.000 0.120 2 73599466 frameshift variant CT/- delins 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 2015 2015
dbSNP: rs1553403282
rs1553403282 		1.000 0.120 2 73448134 frameshift variant TC/- delins
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1553403656
rs1553403656 		1.000 0.120 2 73449864 frameshift variant G/- del
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1553403917
rs1553403917 		0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2018 2018