ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: STARGARDT DISEASE 1 (disorder) ×
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: rs62645950
rs62645950 		1.000 1 94098822 missense variant T/A;C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs62646875
rs62646875 		1.000 1 94014544 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs63749083
rs63749083 		1.000 1 94080539 frameshift variant ATAGTTATTGTCTT/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs779426136
rs779426136 		0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs387906385
rs387906385 		0.925 0.080 1 94042877 frameshift variant -/CA delins 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 1997 1997
dbSNP: rs61750566
rs61750566 		1.000 1 94019616 frameshift variant TG/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 1999 1999
dbSNP: rs62642565
rs62642565 		1.000 1 94001059 stop gained C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2000 2000
dbSNP: rs61749455
rs61749455 		0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 1998 2001
dbSNP: rs61751420
rs61751420 		1.000 1 94080562 missense variant A/C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 1998 2001
dbSNP: rs61753034
rs61753034 		1.000 1 94007727 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 1998 2001
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 2002 2002
dbSNP: rs758835368
rs758835368 		1.000 1 94029621 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs781716640
rs781716640 		1.000 1 94080709 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2007 2007
dbSNP: rs1801581
rs1801581 		0.925 0.080 1 94047009 missense variant C/A;T snv 2.8E-05; 3.0E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2008 2008
dbSNP: rs145961131
rs145961131 		1.000 1 94062608 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs140482171
rs140482171 		1.000 1 94077712 missense variant C/T snv 7.8E-04 4.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs1297857869
rs1297857869 		1.000 1 94011330 missense variant A/G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs1435203678
rs1435203678 		1.000 1 94019690 missense variant G/A;C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs575453437
rs575453437 		1.000 1 94060674 missense variant C/T snv 7.6E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs61748520
rs61748520 		1.000 1 94001046 synonymous variant C/G;T snv 4.0E-06; 1.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 20 1997 2014
dbSNP: rs61749446
rs61749446 		1.000 1 94047010 missense variant G/A;C snv 8.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 20 1997 2014
dbSNP: rs61753029
rs61753029 		1.000 1 94014590 missense variant T/C snv 3.2E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 20 1997 2014
dbSNP: rs61753033
rs61753033 		0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2014
dbSNP: rs121909207
rs121909207 		1.000 1 94014665 missense variant G/A;C snv 1.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014