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: rs1553396088
rs1553396088 		1.000 0.120 2 73385868 start lost ATGGAGCCC/- delins
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553396091
rs1553396091 		1.000 0.120 2 73385870 start lost T/G snv
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1313101326
rs1313101326 		1.000 0.120 2 73603240 splice acceptor variant G/A 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: rs1361885101
rs1361885101 		1.000 0.120 2 73557219 splice acceptor variant G/C 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: rs748477695
rs748477695 		1.000 0.120 2 73489632 splice acceptor variant A/G snv 4.0E-06 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
dbSNP: rs750737346
rs750737346 		1.000 0.120 2 73600677 splice acceptor variant G/A;C snv 8.1E-06
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs764337753
rs764337753 		1.000 0.120 2 73408621 splice acceptor variant G/A;T snv
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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
dbSNP: rs1553403917
rs1553403917 		0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1553403917
rs1553403917 		0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1553403917
rs1553403917 		0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018