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: rs863225093
rs863225093
1 1.000 8 144317794 missense variant A/G snv 0.700 1.000 2 2012 2016
dbSNP: rs148665132
rs148665132
1 1.000 8 144318093 splice donor variant A/G snv 1.3E-04 1.3E-04 0.700 1.000 1 2012 2012