Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.020 1.000 2 2000 2007
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2007 2007
dbSNP: rs61749414
rs61749414
ABCA4
0.882 0.080 1 94062611 stop gained G/A;T snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2001 2001
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2000 2000
dbSNP: rs61753033
rs61753033
ABCA4
0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2002 2002
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019
dbSNP: rs794727903
rs794727903
ABCA4
0.925 0.080 1 94080697 stop gained G/A snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019