Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs377332009
rs377332009
EPHB1 ; CEP63 ; KY
1 1.000 3 134625131 stop gained G/A;T snv 1.4E-05 0.700 0
dbSNP: rs886037917
rs886037917
EPHB1 ; CEP63 ; KY
1 1.000 3 134608668 frameshift variant C/- del 0.700 0