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: rs1562686
rs1562686
1 3 54132293 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7623444
rs7623444
1 3 54140210 intron variant G/A snv 0.51 0.700 1.000 1 2018 2018