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: rs137852603
rs137852603
1 1.000 0.080 10 110280017 missense variant A/C snv 0.800 1.000 5 2008 2015
dbSNP: rs387906417
rs387906417
1 1.000 0.080 10 110279296 splice donor variant T/C snv 0.700 0