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: rs16896391
rs16896391
EYS
1 1.000 0.040 6 65196105 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs7775478
rs7775478
EYS
1 1.000 0.040 6 65151300 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs975618
rs975618
EYS
1 1.000 0.040 6 65114686 intron variant G/A snv 0.27 0.700 1.000 1 2012 2012