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: rs113331868
rs113331868
5 150228191 splice donor variant C/A;T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
0.882 0.040 5 150256811 missense variant A/G snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2017 2017