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: rs318095
rs318095
1 17 48897372 intron variant T/C snv 0.40 0.700 1.000 2 2014 2019
dbSNP: rs12948439
rs12948439
1 17 48889762 intron variant G/A;C snv 0.41 0.700 1.000 1 2019 2019