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: rs1468358104
rs1468358104
3 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
dbSNP: rs899735028
rs899735028
2 1 212858455 start lost G/T snv 1.4E-05 0.700 1.000 6 1997 2016