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: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2004 2004