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: rs1554397774
rs1554397774
1 7 66633273 splice acceptor variant A/G snv 0.700 1.000 10 2005 2016
dbSNP: rs201296399
rs201296399
1 7 66633320 missense variant A/G snv 5.6E-05 4.9E-05 0.700 1.000 10 2005 2016