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: rs80358284
rs80358284
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
Familial Exudative Vitreoretinopathy
0.700 1.000 7 2003 2016
dbSNP: rs80358295
rs80358295
0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05
Familial Exudative Vitreoretinopathy
0.700 0
dbSNP: rs61735304
rs61735304
0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02
Familial Exudative Vitreoretinopathy
0.010 1.000 1 2010 2010
dbSNP: rs80358282
rs80358282
0.925 0.080 11 86954881 missense variant G/A snv 5.2E-04 1.5E-04
Familial Exudative Vitreoretinopathy
0.010 1.000 1 2004 2004
dbSNP: rs80358287
rs80358287
0.925 0.080 11 86952215 missense variant A/G snv
Familial Exudative Vitreoretinopathy
0.010 1.000 1 2004 2004
dbSNP: rs80358294
rs80358294
0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05
Familial Exudative Vitreoretinopathy
0.010 1.000 1 2007 2007
dbSNP: rs919205099
rs919205099
1.000 11 86952386 missense variant C/T snv 4.0E-06
Familial Exudative Vitreoretinopathy
0.010 1.000 1 2010 2010