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: rs12128526
rs12128526
1 1 7663897 synonymous variant G/A;C snv 0.45; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1891215
rs1891215
1 1 7667794 intron variant T/C snv 0.46 0.700 1.000 1 2019 2019