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: rs794726859
rs794726859
1 1.000 3 11017342 missense variant G/A;C snv 0.800 0
dbSNP: rs1559623389
rs1559623389
1 1.000 3 11018699 splice donor variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1064795290
rs1064795290
1 1.000 3 11017921 missense variant A/G snv 0.700 0
dbSNP: rs1064795852
rs1064795852
1 1.000 3 11017434 missense variant G/A snv 0.700 0