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: rs930421180
rs930421180
EYS
1 1.000 0.080 6 64591822 stop gained G/A snv 7.0E-06 0.700 1.000 1 2013 2013